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Juvenile Polyposis Syndrome

Asta Literature Retrieval: Disease Pathophysiology Research Template Target Disease Disease Name: Juvenile Polyposis Syndrome MONDO ID: (if avai...

2026-03-16
Asta MONDO:0017380 Model: Asta Scientific Corpus Retrieval 20 citations

Asta Literature Retrieval: Disease Pathophysiology Research Template Target Disease Disease Name: Juvenile Polyposis Syndrome MONDO ID: (if avai...

This report is retrieval-only and is generated directly from Asta results.

  • Papers retrieved: 20
  • Snippets retrieved: 20

Relevant Papers

[1] Juvenile polyposis syndrome.

  • Authors: Aa Lodewijk, Danielle Brosens, W. Langeveld, Vansoesbergen Arnout, Francis M Hattem et al.
  • Year: 2011
  • Venue: World journal of gastroenterology
  • URL: https://www.semanticscholar.org/paper/90123101e9b4b3d3941b31e56ea57625abaa3237
  • DOI: 10.3748/wjg.v17.i44.4839
  • PMID: 22171123
  • Citations: 103
  • Influential citations: 4
  • Summary: Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a distinctive histology characterized by an abundance of edematous lamina propria with inflammatory cells and cystically dilated glands lined by cuboidal to columnar epithelium with reactive changes...
  • Evidence snippets:
  • Snippet 1 (score: 0.729) > Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a distinctive histology characterized by an abundance of edematous lamina propria with inflammatory cells and cystically dilated glands lined by cuboidal to columnar epithelium with reactive changes. Clinically, juvenile polyposis syndrome is defined by the presence of 5 or more juvenile polyps in the colorectum, juvenile polyps throughout the gastrointestinal tract or any number of juvenile polyps and a positive family history of juvenile polyposis. In about 50%-60% of patients diagnosed with juvenile polyposis syndrome a germline mutation in the SMAD4 or BMPR1A gene is found. Both genes play a role in the BMP/TGF-beta signalling pathway. It has been suggested that cancer in juvenile polyposis may develop through the so-called "landscaper mechanism" where an abnormal stromal environment leads to neoplastic transformation of the adjacent epithelium and in the end invasive carcinoma. Recognition of this rare disorder is important for patients and their families with regard to treatment, follow-up and screening of at risk individuals. Each clinician confronted with the diagnosis of a juvenile polyp should therefore consider the possibility of juvenile polyposis syndrome. In addition, juvenile polyposis syndrome provides a unique model to study colorectal cancer pathogenesis in general and gives insight in the molecular genetic basis of cancer. This review discusses clinical manifestations, genetics, pathogenesis and management of juvenile polyposis syndrome.

[2] An Emerging Molecular Understanding and Novel Targeted Treatment Approaches in Pediatric Kidney Diseases

  • Authors: M. Liebau
  • Year: 2014
  • Venue: Frontiers in Pediatrics
  • URL: https://www.semanticscholar.org/paper/43328e402afddc6f4345776f9891168222500893
  • DOI: 10.3389/fped.2014.00068
  • PMID: 25050320
  • PMCID: 4076740
  • Citations: 9
  • Summary: Three fields of recent breathtaking developments in pediatric nephrology are the pathophysiology of nephrotic syndrome and proteinuria, the molecular mechanisms underlying atypical hemolytic uremic syndrome, and the genetics and cellular biology of inherited cystic kidney diseases.
  • Evidence snippets:
  • Snippet 1 (score: 0.577) > The evaluation and treatment of the heterogeneous group of kidney diseases poses a challenging field in pediatrics. Many of the pediatric disorders resulting in severe renal affection are exceedingly rare and therapeutic approaches have remained symptomatic for most of these disease entities. The insights obtained from cellular and molecular studies of rare disorders by recent genetic studies have now substantially changed our mechanistic understanding of various important pediatric renal diseases and positive examples of targeted treatment approaches are emerging. Three fields of recent breathtaking developments in pediatric nephrology are the pathophysiology of nephrotic syndrome and proteinuria, the molecular mechanisms underlying atypical hemolytic uremic syndrome, and the genetics and cellular biology of inherited cystic kidney diseases. In all three areas, the combined power of molecular basic science together with deeply characterizing clinical approaches has led to the establishment of novel pathophysiological principles and to the first clinical trials of targeted treatment approaches.

[3] Emerging Trends in Pathophysiology: Insights from the 9th International Congress of the International Society for Pathophysiology (ISP 2023)

  • Authors: A. Kubyshkin, S. Bolevich, L. Churilov, V. Jakovljevic, E. Kovalenko et al.
  • Year: 2024
  • Venue: Pathophysiology
  • URL: https://www.semanticscholar.org/paper/3ab0c7d37d984c72ca8cba300cb8052c1326e61a
  • DOI: 10.3390/pathophysiology31010011
  • PMID: 38535621
  • PMCID: 10975917
  • Summary: The main trends and the most promising areas of research in current pathophysiology, including investigations of new pathogenic pathways, and the identification of cellular and molecular mechanisms, target molecules, genetic mechanisms, and new therapeutic strategies are described.
  • Evidence snippets:
  • Snippet 1 (score: 0.551) > This article provides a summary of the 9th International Congress of the International Society for Pathophysiology (ISP 2023) which took place in Belgrade, Serbia, from 4 to 6 July 2023. It describes the main trends and the most promising areas of research in current pathophysiology, including investigations of new pathogenic pathways, and the identification of cellular and molecular mechanisms, target molecules, genetic mechanisms, and new therapeutic strategies. The present article also highlights the research conducted by leading scientific teams and national pathophysiological societies from various countries that adds to our understanding of the pathogenesis of diseases and pathological processes.

[4] Re-recognition of BMPR1A-related polyposis: beyond juvenile polyposis and hereditary mixed polyposis syndrome

  • Authors: Zilong Zhao, Ye-Yan Lei, Zhao-Ming Wang, Huan Han, Jun-jie Xing et al.
  • Year: 2023
  • Venue: Gastroenterology Report
  • URL: https://www.semanticscholar.org/paper/85576898f6837cd4432dea9c90f61139f07c26d0
  • DOI: 10.1093/gastro/goac082
  • PMID: 36632626
  • PMCID: 9825710
  • Citations: 7
  • Summary: Diseases in BMPR1A germline mutation carriers vary from mixed polyposis to sole colorectal cancer, and typical juvenile polyps do not always occur in these carriers.
  • Evidence snippets:
  • Snippet 1 (score: 0.546) > During the last two decades, our understanding of hereditary colorectal cancer (CRC) syndrome has progressed considerably, especially gastrointestinal (GI) polyposis. Researchers have gained awareness of more polyposis categories and have studied their clinical presentations, pathological features, treatment strategies, and prognoses. Seven polyposis types have been independently described in the American College of Submitted: 4 May 2022; Revised: 30 November 2022; Accepted: 5 December 2022 V C The Author(s) 2023. Published by Oxford University Press and Sixth Affiliated Hospital of Sun Yat-sen University This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/ licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com Gastroenterology (ACG) guidelines, with specific management recommendations including familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome (JPS), Cowden syndrome, and serrated polyposis syndrome [1]. With the development of molecular diagnostic techniques, classifying polyposis syndromes by genetic alterations is a tendency to facilitate disease management in genetic counseling and risk assessment. For example, adenomatous polyposis syndromes can be classified as APC-associated polyposis (AAP), MAP, AXIN2-associated colorectal adenomatous polyposis, polymerase proofreadingassociated polyposis, and Constitutional mismatch repair deficiency (CMMRD) syndromes [2]. > Generally, mutations in a gene cause a hereditary disease. According to Online Mendelian Inheritance in Man (https:// omim.org/),

[5] Understanding the Pathophysiology of Atopic Dermatitis – insights into Immune Dysregulation and Skin Barrier Dysfunction

  • Authors: Maja Kucharska, Kacper Kwiliński, Barbara Wawrzyńska, Marlena Cąkała, Adrian Kruszewski et al.
  • Year: 2024
  • Venue: Quality in Sport
  • URL: https://www.semanticscholar.org/paper/9ba8ec050f511e04ecb6b80a72906f5c9323e629
  • DOI: 10.12775/qs.2024.19.54073
  • Summary: Atopic dermatitis is a complex, chronic inflammatory skin disease with a multifaceted pathophysiology involving genetic, immunological, and environmental factors including filaggrin mutations, Th2 cytokine-mediated inflammation, and the skin microbiome.
  • Evidence snippets:
  • Snippet 1 (score: 0.545) > Atopic dermatitis (AD) is a chronic inflammatory skin disease characterized by a disrupted skin barrier and immune dysregulation. The exact pathophysiology of atopic dermatitis despite extensive research remains complex. It includes genetic disorders, a defect in the epidermal barrier, an altered immune response, and disruption of the skin’s microbial balance. Recent advances in research have provided deeper insights into the molecular mechanisms including the role of filaggrin mutations, Th2 cytokine-mediated inflammation, and the skin microbiome. Understanding the intricate interplay between these components is crucial for developing targeted therapeutic strategies. > Aim of the study: This review provides a comprehensive overview of the current knowledge on the pathophysiological mechanisms underlying AD, highlighting recent advances and areas for future research. > Material and methods: Comprehensive literature searches were performed across the main electronic databases of PubMed and GoogleScholar using the keywords: “atopic dermatitis”, “eczema pathophysiology”, “skin barrier”. > Conclusions: Atopic dermatitis (AD) is a complex, chronic inflammatory skin disease with a multifaceted pathophysiology involving genetic, immunological, and environmental factors. Recent advances in understanding the molecular mechanisms underlying AD have highlighted the importance of skin barrier dysfunction, immune system dysregulation, and microbial interactions in the disease's progression.

[6] mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion

  • Authors: Henry Taylor, D. Yerlioglu, Claudia Phen, A. Ballauff, N. Nedelkopoulou et al.
  • Year: 2021
  • Venue: Human Molecular Genetics
  • URL: https://www.semanticscholar.org/paper/5c11cfb29e7606ba4a7109832bc040d548a140e5
  • DOI: 10.1093/hmg/ddab094
  • PMID: 33822054
  • PMCID: 8804886
  • Citations: 19
  • Influential citations: 1
  • Summary: Inhibition of the phosphoinositol-3-kinase–AKT–mTOR pathway mitigates the detrimental synergistic effects of combined PTEN–BMPR1A deletion, the first effective pharmacological treatment identified for a hamartomatous polyposis syndrome.
  • Evidence snippets:
  • Snippet 1 (score: 0.539) > The study of rare genetic disorders can give insight into pathogenic mechanisms relevant to more common conditions, and targeting these mechanisms can provide proof of concept for personalized medicine. Dysregulation of signaling pathways controlling epithelial homeostasis is implicated in the pathogenesis of hereditary polyposis syndromes and sporadic colorectal cancer. Targeting those mechanisms and preventing tumor progression has been a research priority. > Phosphoinositol-3-kinase (PI3K)-AKT signaling and the bone morphogenetic protein (BMP) pathway control epithelial and mesenchymal crosstalk and maintain epithelial homeostasis. Hereditary hamartomatous polyposis syndromes result from dysregulation of these pathways. Germline loss of function mutations in phosphatase and tensin homolog deleted on chromosome 10 (PTEN), the master negative regulator of PI3K-AKT signaling, result in PTEN hamartoma tumor syndrome (PHTS) (1). Similarly, germline mutations of bone morphogenetic protein receptor type IA (BMPR1A), a key receptor in the BMP/SMAD signaling pathway, are a cause of juvenile polyposis syndrome (JPS). > PHTS encompasses individuals with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome carrying germline PTEN loss of function mutations (1)(2)(3). PHTS is associated with a range of dermatological, neurological and vascular features and leads to increased cancer susceptibility (4)(5)(6). Patients with PHTS typically develop gastrointestinal symptoms secondary to polyp formation during young adulthood (1,(7)(8)(9). Current recommendations are to initiate endoscopic surveillance for cancer at 35 years of age (10). > JPS is caused by germline defects in BMPR1A or SMAD4 (11)(12)(13)(14). Hamartomatous polyps typically develop in JPS by 14-20 years of age (11,15,16). Endoscopic surveillance is recommended starting at age 12 or earlier if there are gastrointestinal symptoms (14,17).

[7] Many Genes—One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders

  • Authors: Shalabh Srivastava, E. Molinari, S. Raman, J. Sayer
  • Year: 2018
  • Venue: Frontiers in Pediatrics
  • URL: https://www.semanticscholar.org/paper/f695fc6899fd35d76f28106d96c2d0147d760813
  • DOI: 10.3389/fped.2017.00287
  • PMID: 29379777
  • PMCID: 5770800
  • Citations: 112
  • Influential citations: 4
  • Summary: The genetic causes of NPHP are discussed in terms of how they help to define treatable disease pathways including the cyclic adenosine monophosphate pathway, the mTOR pathway, Hedgehog signaling pathways, and DNA damage response pathways.
  • Evidence snippets:
  • Snippet 1 (score: 0.532) > The clinical and pathological diagnosis of NPHP is important, given its progression to ESRD and its associated extrarenal manifestations. Molecular genetic investigations allows a diagnosis in around one-third of cases and can give insights into the associated disease features, the underlying mechanisms and hopefully pave the way for individualized treatments for the underlying kidney disease. As this review demonstrates, it is true that many genes cause NPHP and while most of the identified molecular causes implicate the primary cilium in the pathogenesis of NPHP, it has also become apparent that there are important differences in the underlying pathophysiology. The traditional descriptions of NPHP of infantile, juvenile, and adolescent may now seem dated; however, they highlight the fact that different genetic forms of the disease disrupt the kidney by different mechanisms, demanding a precision medicine approach to the diagnosis, understanding and treatment of NPHP and its associated syndromes.

[8] Signaling pathways and potential therapeutic targets in acute respiratory distress syndrome (ARDS)

  • Authors: Qian-rui Huang, Yue Le, Shusheng Li, Yi Bian
  • Year: 2024
  • Venue: Respiratory Research
  • URL: https://www.semanticscholar.org/paper/886cb171076bcc2ba770b87ab0fae9baa96120ba
  • DOI: 10.1186/s12931-024-02678-5
  • PMID: 38218783
  • PMCID: 10788036
  • Citations: 57
  • Influential citations: 1
  • Summary: The pathogenesis and pathophysiology of ARDS that involve dysregulated inflammation, alveolar-capillary barrier dysfunction, impaired alveolar fluid clearance and oxidative stress are described and the emerging therapeutic strategies that show exciting promise are discussed.
  • Evidence snippets:
  • Snippet 1 (score: 0.531) > Acute respiratory distress syndrome (ARDS) is a common condition associated with critically ill patients, characterized by bilateral chest radiographical opacities with refractory hypoxemia due to noncardiogenic pulmonary edema. Despite significant advances, the mortality of ARDS remains unacceptably high, and there are still no effective targeted pharmacotherapeutic agents. With the outbreak of coronavirus disease 19 worldwide, the mortality of ARDS has increased correspondingly. Comprehending the pathophysiology and the underlying molecular mechanisms of ARDS may thus be essential to developing effective therapeutic strategies and reducing mortality. To facilitate further understanding of its pathogenesis and exploring novel therapeutics, this review provides comprehensive information of ARDS from pathophysiology to molecular mechanisms and presents targeted therapeutics. We first describe the pathogenesis and pathophysiology of ARDS that involve dysregulated inflammation, alveolar-capillary barrier dysfunction, impaired alveolar fluid clearance and oxidative stress. Next, we summarize the molecular mechanisms and signaling pathways related to the above four aspects of ARDS pathophysiology, along with the latest research progress. Finally, we discuss the emerging therapeutic strategies that show exciting promise in ARDS, including several pharmacologic therapies, microRNA-based therapies and mesenchymal stromal cell therapies, highlighting the pathophysiological basis and the influences on signal transduction pathways for their use.

[9] Genetics, Pathophysiology, and Current Challenges in Von Hippel–Lindau Disease Therapeutics

  • Authors: Laura Gómez-Virgilio, Mireya Velazquez-Paniagua, Lucero Cuazozon-Ferrer, M. Silva-Lucero, Andres‐Ivan Gutierrez‐Malacara et al.
  • Year: 2024
  • Venue: Diagnostics
  • URL: https://www.semanticscholar.org/paper/200b619457e175065d52d78688e721b5a9251a3c
  • DOI: 10.3390/diagnostics14171909
  • PMID: 39272694
  • PMCID: 11393980
  • Citations: 7
  • Summary: The importance of ongoing research to develop new and improved treatments for VHL disease is emphasized, including the lack of effective therapies for some tumor types and the need for better methods to monitor disease progression.
  • Evidence snippets:
  • Snippet 1 (score: 0.531) > The genetic basis of VHL disease, characterized by mutations in the VHL gene, plays a central role in predisposing individuals to a spectrum of tumors and cysts in various organs. Further research into the genetic mechanisms underlying VHL is essential for advancing diagnostic and therapeutic strategies. > The pathophysiology of VHL syndrome, involving the loss of function of the VHL tumor suppressor protein and subsequent activation of hypoxia-inducible factors, provides valuable insights into the molecular pathways driving tumorigenesis in this condition. Understanding these pathways is crucial for developing targeted therapies. > The clinical heterogeneity observed in VHL underscores the need for personalized approaches to diagnosis and management. Tailoring treatment strategies to individual patients based on their genetic and clinical profiles can optimize outcomes and quality of life. > Advances in the understanding of VHL disease at the genetic and molecular levels hold promise for the development of more effective and personalized therapeutic interventions. Targeted therapies that address the specific molecular alterations in VHL-associated tumors could revolutionize treatment outcomes. > Future Directions: Continued research into the genetics, pathophysiology, and clinical management of VHL disease is essential for improving patient outcomes and quality of life. Collaborative efforts across disciplines, including genetics, oncology, and molecular biology, will be crucial for advancing our understanding of VHL and translating this knowledge into innovative therapeutic approaches. > The present review delves into the intricate interplay of genetics, pathophysiology, and clinical manifestations of VHL disease. By elucidating the role of the VHL tumor suppressor gene, the dysregulation of the hypoxia-inducible factor (HIF) pathway, and the diverse clinical presentations, this work provides a comprehensive overview of the disease. While significant strides have been made in understanding the underlying mechanisms of VHL disease, challenges persist in developing effective therapies for all tumor types. Furthermore, the influence of regional factors, such as founder effects, genetic background, environmental exposures, and healthcare disparities, underscores the need for specific approaches to prevention, early detection, and treatment. Continued research is imperative to unravel the complexities of VHL disease, identify novel therapeutic targets, and improve the quality of life for affected individuals.

[10] Pathophysiology of Cardiovascular Diseases: New Insights into Molecular Mechanisms of Atherosclerosis, Arterial Hypertension, and Coronary Artery Disease

  • Authors: W. Frąk, Armanda Wojtasińska, Wiktoria Lisińska, Ewelina Młynarska, Beata Franczyk et al.
  • Year: 2022
  • Venue: Biomedicines
  • URL: https://www.semanticscholar.org/paper/e8c3fefa8425efe6403c70beece2ee4ff5f5369e
  • DOI: 10.3390/biomedicines10081938
  • PMID: 36009488
  • PMCID: 9405799
  • Citations: 211
  • Influential citations: 5
  • Summary: This review summarizes the available information on the pathophysiological implications of CVDs, focusing on coronary artery disease along with Atherosclerosis as its major cause and arterial hypertension, and discusses the endothelium dysfunction, inflammatory factors, and oxidation associated with atherosclerosis.
  • Evidence snippets:
  • Snippet 1 (score: 0.523) > Cardiovascular diseases (CVDs) are disorders associated with the heart and circulatory system. Atherosclerosis is its major underlying cause. CVDs are chronic and can remain hidden for a long time. Moreover, CVDs are the leading cause of global morbidity and mortality, thus creating a major public health concern. This review summarizes the available information on the pathophysiological implications of CVDs, focusing on coronary artery disease along with atherosclerosis as its major cause and arterial hypertension. We discuss the endothelium dysfunction, inflammatory factors, and oxidation associated with atherosclerosis. Mechanisms such as dysfunction of the endothelium and inflammation, which have been identified as critical pathways for development of coronary artery disease, have become easier to diagnose in recent years. Relatively recently, evidence has been found indicating that interactions of the molecular and cellular elements such as matrix metalloproteinases, elements of the immune system, and oxidative stress are involved in the pathophysiology of arterial hypertension. Many studies have revealed several important inflammatory and genetic risk factors associated with CVDs. However, further investigation is crucial to improve our knowledge of CVDs progression and, more importantly, accelerate basic research to improve our understanding of the mechanism of pathophysiology.

[11] Neurodevelopmental models of transcription factor 4 deficiency converge on a common ion channel as a potential therapeutic target for Pitt Hopkins syndrome

  • Authors: Matthew D. Rannals, S. Page, Morganne N. Campbell, Ryan A. Gallo, Brent Mayfield et al.
  • Year: 2016
  • Venue: Rare Diseases
  • URL: https://www.semanticscholar.org/paper/5527675a93315291579d926c05b804d7c82e2090
  • DOI: 10.1080/21675511.2016.1220468
  • PMID: 28032012
  • PMCID: 5154382
  • Citations: 26
  • Influential citations: 2
  • Summary: It is demonstrated that haploinsufficiency of TCF4 lead to the ectopic expression of two ion channels, Scn10a and Kcnq1, which indicates SCN10a is a potential therapeutic target for Pitt-Hopkins syndrome.
  • Evidence snippets:
  • Snippet 1 (score: 0.520) > Determining the underlying mechanisms of pathophysiology for rare diseases, as well as for more common disorders, is a formidable challenge. Here, and in our recent article, 13 we have described a system for phenotype discovery in a rare disease model that utilizes a novel molecular profiling method we term iTRAP that is capable of identifying candidate molecular mechanisms underlying pathophysiological phenotypes. > By comparing a cell autonomous TCF4 haploinsufficiency rat model to a PTHS mouse model, we identified a common electrophysiological phenotype that is at least partially caused by inappropriate expression of Scn10a, a voltage-gated sodium channel. We now consider SCN10a to be a potential therapeutic target for PTHS. Further experiments are required to determine if these phenotypes and molecular mechanisms observed at the cellular level can be successfully translated to the level of mouse behavior, to human biology, and ultimately to the development of therapeutic agents.

[12] EndoCompass Project: Research Roadmap for Calcium and Bone Endocrinology

  • Authors: K. Jähn-Rickert, K. Z. Tomsic, A. Anastasilakis, Jean-Philippe Bertocchio, M. L. Brandi et al.
  • Year: 2025
  • Venue: Hormone Research in Pædiatrics
  • URL: https://www.semanticscholar.org/paper/fccbdcae3a86c448632e05f9c38ad2563c14284d
  • DOI: 10.1159/000549160
  • PMID: 41296665
  • PMCID: 12698132
  • Summary: This framework identifies crucial investigation areas into metabolic bone disease pathophysiology, prevention, and treatment strategies, ultimately aimed at reducing the burden of these disorders on individuals and society.
  • Evidence snippets:
  • Snippet 1 (score: 0.514) > Skeletal dysplasias encompass a large spectrum of genetic disorders of the skeleton with abnormal bone growth, structure, or strength [85]. Individually, they are rare but, collectively, due to the large number of skeletal dysplasias (>700), they result in significant morbidity. The underlying pathology remains inadequately understood and the optimal therapy is often undefined, with precision drug treatment targeting the underlying molecular mechanism not available for most skeletal dysplasias. Gene discoveries have increased exponentially, demonstrating the value of advanced genetic tools and motivating further research into the complex pathogenesis of skeletal dysplasias. > However, further basic research is required to uncover the cellular pathology and implicated molecular pathways in various forms of skeletal dysplasia. Understanding the pathophysiology of skeletal dysplasias may also benefit a larger patient population. This is evidenced by anti-sclerostin treatment for osteoporosis [86] which, at present, is in clinical trials for osteogenesis imperfecta. Preclinical data show positive effects on bone mass and strength [87]. > The spectrum of disease manifestations of various skeletal dysplasias in different phases of life and health projections across the life course remain inadequately studied. Research on therapeutic approaches needs to focus not only on correcting the pathophysiology but also, more broadly, on surgical approaches, rehabilitation, functional/environmental adaptations, preventative measures, pain management, psychological support, and quality of life. Patient groups must be involved in identifying these research goals. International registries should be utilized to collect and analyse such data. > A multidisciplinary approach is of particular importance in genetic skeletal disorders, to enable cohesive care throughout the life course. The patients have a range of physical impairments due to their skeletal disorder, but also a disease-specific spectrum of extraskeletal manifestations requiring medical attention. These may include, for example, dental and oral health problems, immune deficiency, impaired hearing, and neurological or ophthalmologic manifestations.

[13] Pediatric Hepatocellular Carcinoma: A Review of Predisposing Conditions, Molecular Mechanisms, and Clinical Considerations

  • Authors: E. P. Young, Allison F O'Neill, Arun Rangaswami
  • Year: 2025
  • Venue: International Journal of Molecular Sciences
  • URL: https://www.semanticscholar.org/paper/d8b4f262f141b439465e9857ae8203409b928bac
  • DOI: 10.3390/ijms26031252
  • PMID: 39941018
  • PMCID: 11818592
  • Citations: 7
  • Summary: The epidemiology of pediatric HCC is detailed with a focus on predisposing factors including hepatic or systemic disease, genetic disorders, and familial cancer syndromes, including hepatocellular neoplasm not otherwise specifed (HCN-NOS).
  • Evidence snippets:
  • Snippet 1 (score: 0.513) > Pediatric hepatocellular carcinoma (HCC) is a rare malignant liver tumor affecting children and adolescents and occurring either sporadically or in the context of underlying liver disease. In this review, we detail the epidemiology of pediatric HCC with a focus on predisposing factors including hepatic or systemic disease, genetic disorders, and familial cancer syndromes. We summarize existing research on the pathophysiology of pediatric HCC, including molecular mechanisms of oncogenesis, highlighting unique disease features differentiating pediatric HCC from adult HCC. We then survey the landscape of therapeutic options for pediatric HCC, including novel therapeutics. Lastly, we discuss the pathologic spectrum upon which pediatric HCC is postulated to exist, ranging from hepatoblastoma to HCC and including the hybrid entity hepatocellular neoplasm not otherwise specifed (HCN-NOS). In summary, we highlight the key clinical and molecular features of pediatric HCC that may inform future research and novel approaches to the clinical care of these patients.

[14] Molecular approach to genetic and epigenetic pathogenesis of early-onset colorectal cancer.

  • Authors: G. Tezcan, B. Tunca, S. Ak, G. Cecener, U. Egeli
  • Year: 2016
  • Venue: World journal of gastrointestinal oncology
  • URL: https://www.semanticscholar.org/paper/d246995e4d9e0db5621e8972793b3824a9815377
  • DOI: 10.4251/wjgo.v8.i1.83
  • PMID: 26798439
  • Citations: 27
  • Influential citations: 3
  • Summary: The present review will focus on the recent knowledge in the molecular basis of genetic and epigenetic mechanism of the hereditary forms of EOCRC, which includes Lynch syndrome, Fam familial CRC type X, Familial adenomatous polyposis, MutYH-associated polyPOSis, Juvenile polyposIS syndrome, Peutz-Jeghers Syndrome and sporadic forms ofEOCRC.
  • Evidence snippets:
  • Snippet 1 (score: 0.508) > Colorectal cancer (CRC) is the third most frequent cancer type and the incidence of this disease is increasing gradually per year in individuals younger than 50 years old. The current knowledge is that early-onset CRC (EOCRC) cases are heterogeneous population that includes both hereditary and sporadic forms of the CRC. Although EOCRC cases have some distinguishing clinical and pathological features than elder age CRC, the molecular mechanism underlying the EOCRC is poorly clarified. Given the significance of CRC in the world of medicine, the present review will focus on the recent knowledge in the molecular basis of genetic and epigenetic mechanism of the hereditary forms of EOCRC, which includes Lynch syndrome, Familial CRC type X, Familial adenomatous polyposis, MutYH-associated polyposis, Juvenile polyposis syndrome, Peutz-Jeghers Syndrome and sporadic forms of EOCRC. Recent findings about molecular genetics and epigenetic basis of EOCRC gave rise to new alternative therapy protocols. Although exact diagnosis of these cases still remains complicated, the present review paves way for better predictions and contributes to more accurate diagnostic and therapeutic strategies into clinical approach.

[15] 5. Hereditary Kidney Disorders

  • Authors: A. Stavljenic-Rukavina
  • Year: 2009
  • Venue: EJIFCC
  • URL: https://www.semanticscholar.org/paper/3130ef69f6556fdfdd741e3495c85439e6146976
  • PMID: 27683325
  • PMCID: 4975268
  • Citations: 4
  • Summary: The global increasing number of patients with ESRD urges the identification of molecular pathways involved in renal pathophysiology in order to serve as targets for either prevention or intervention.
  • Evidence snippets:
  • Snippet 1 (score: 0.507) > Hereditary kidney disorders represent significant risk for the development of end stage renal desease (ESRD). Most of them are recognized in childhood, or prenataly particularly those phenotypicaly expressed as anomalies on ultrasound examination (US) during pregnancy. They represent almost 50% of all fetal malformations detected by US (1). Furthermore many of urinary tract malformations are associated with renal dysplasia which leeds to renal failure. > Recent advances in molecular genetics have made a great impact on better understanding of underlying molecular mechanisms in different kidney and urinary tract disorders found in childhood or adults. Even some of clinical syndromes were not recognized earlier as genetic one. In monogenic kidney diseases gene mutations have been identified for Alport syndrome and thin basement membrane disease, autosomal dominant polycystic kidney disease, and tubular transporter disorders. There is evident progress in studies of polygenic renal disorders as glomerulopathies and diabetic nephropathy. The expanded knowledge on renal physiology and pathophysiology by analyzing the phenotypes caused by defected genes might gain to earlier diagnosis and provide new diagnostic and prognostic tool. The global increasing number of patients with ESRD urges the identification of molecular pathways involved in renal pathophysiology in order to serve as targets for either prevention or intervention. Molecular genetics nowadays possess significant tools that can be used to identify genes involved in renal disease including gene expression arrays, linkage analysis and association studies.

[16] Skin Development and Disease: A Molecular Perspective

  • Authors: Iasonas Dermitzakis, Despoina Chatzi, Stella Aikaterini Kyriakoudi, Nikolaos Evangelidis, E. Vakirlis et al.
  • Year: 2024
  • Venue: Current Issues in Molecular Biology
  • URL: https://www.semanticscholar.org/paper/3b0d602b335c265102e2a9f169bab20f51343212
  • DOI: 10.3390/cimb46080487
  • PMID: 39194704
  • PMCID: 11353016
  • Citations: 15
  • Influential citations: 1
  • Summary: By delving into the molecular mechanisms implicated in developmental processes, as well as in the pathogenesis of diseases, a comprehensive understanding of these aspects paves the way for developing innovative targeted therapies and personalised treatment approaches for various skin conditions.
  • Evidence snippets:
  • Snippet 1 (score: 0.507) > Understanding the molecular mechanisms underlying congenital skin diseases and cancer has significantly advanced in recent years, providing crucial insights into the pathogenesis of these conditions. Researchers have uncovered key genetic mutations, signalling cascades, and cellular interactions that drive the development and progression of these disorders by unravelling the intricate molecular pathways affected. This section emphasises that the various molecular signals involved in embryonic development are also implicated in the pathophysiology of certain congenital skin diseases and types of cancer. Analysing these connections provides valuable insights into the molecular mechanisms underlying both skin development and the pathogenesis of skin cancers, such as basal cell and squamous cell carcinoma. Skin cancers often stem from disruptions in essential biological pathways that are also involved in normal skin development. Therefore, identifying these specific molecules can pave the way for developing new targeted therapies through laboratory-based interventions.

[17] The Potential Clinical Relevance of Procoagulant Microparticles as Biomarkers of Blood Coagulation in Breast Cancer: A Systematic Review

  • Authors: Marzieh Haghbin, Abdolreza Sotoodeh Jahromi, Akbar Hashemi Tayer, Zahra Ghasemi Nejad
  • Year: 2025
  • Venue: Asian Pacific Journal of Cancer Prevention : APJCP
  • URL: https://www.semanticscholar.org/paper/cbff9cc690ff18a687639d083c6b43e63b1beb1d
  • DOI: 10.31557/APJCP.2025.26.1.23
  • PMID: 39873982
  • PMCID: 12082420
  • Summary: The association between MPs levels and disease severity, as evidenced by their correlation with tissue-based biomarkers, tumor grading, and distant metastasis, highlights their clinical relevance in prognostication and risk stratification.
  • Evidence snippets:
  • Snippet 1 (score: 0.506) > Future research should focus on clarifying the underlying mechanisms of MPs-mediated pathophysiology and exploring their potential as therapeutic targets. Specifically, investigating the molecular pathways involved in MPs-induced immune modulation, thrombogenicity, and chemotherapy resistance could reveal novel therapeutic strategies to reduce disease progression and treatment complications. Additionally, longitudinal studies are needed to evaluate the prognostic value of MPs levels in predicting treatment response, disease recurrence, and overall survival in cancer patients. In general, continued exploration of the role of MPs in disease pathogenesis and their therapeutic potential is crucial for advancing our understanding and improving clinical outcomes in cancer.

[18] Novel Insights into the Molecular Mechanisms of Atherosclerosis

  • Authors: Armanda Wojtasińska, W. Frąk, Wiktoria Lisińska, Natalia Sapeda, Ewelina Młynarska et al.
  • Year: 2023
  • Venue: International Journal of Molecular Sciences
  • URL: https://www.semanticscholar.org/paper/fae6fbd9d1854df6a8d53eb43525ea8ec5af1cd7
  • DOI: 10.3390/ijms241713434
  • PMID: 37686238
  • PMCID: 10487483
  • Citations: 50
  • Summary: This review summarizes the available information on the pathophysiological implications of atherosclerosis, focusing on endothelium dysfunction, inflammatory factors, aging, and uric acid, vitamin D, and miRNA expression as recent evidence of interactions of the molecular and cellular elements.
  • Evidence snippets:
  • Snippet 1 (score: 0.505) > Atherosclerosis is one of the most fatal diseases in the world. The associated thickening of the arterial wall and its background and consequences make it a very composite disease entity with many mechanisms that lead to its creation. It is an active process, and scientists from various branches are engaged in research, including molecular biologists, cardiologists, and immunologists. This review summarizes the available information on the pathophysiological implications of atherosclerosis, focusing on endothelium dysfunction, inflammatory factors, aging, and uric acid, vitamin D, and miRNA expression as recent evidence of interactions of the molecular and cellular elements. Analyzing new discoveries for the underlying causes of this condition assists the general research to improve understanding of the mechanism of pathophysiology and thus prevention of cardiovascular diseases.

[19] Biomarkers and Signaling Pathways Implicated in the Pathogenesis of Idiopathic Multicentric Castleman Disease/Thrombocytopenia, Anasarca, Fever, Reticulin Fibrosis, Renal Insufficiency, and Organomegaly (TAFRO) Syndrome

  • Authors: R. Sumiyoshi, T. Koga, A. Kawakami
  • Year: 2024
  • Venue: Biomedicines
  • URL: https://www.semanticscholar.org/paper/871429e0ae4857c43957bd2869f973f899b2efe1
  • DOI: 10.3390/biomedicines12061141
  • PMID: 38927348
  • PMCID: 11200392
  • Citations: 6
  • Summary: Results suggest that dominant pathways may vary between subtypes of iMCD, and further research into the peripheral blood and lymph nodes is required to determine the disease spectrum of iMCD-NOS/iMCD-TAFRO/TAFRO syndrome.
  • Evidence snippets:
  • Snippet 1 (score: 0.501) > In terms of future research, this strategy entails isolating peripheral blood mononuclear cells from both patients and healthy people, followed by bulk RNA sequencing and singlecell RNA sequencing.This comprehensive approach seeks to thoroughly examine pathway expression, shedding light on the underlying mechanisms of the iMCD/TAFRO syndrome.The study does not just compare healthy people to patients; it also looks for differences between the various clinical subtypes of iMCD-NOS/iMCD-TAFRO/TAFRO syndrome and different histopathological types of lymph nodes. > Simultaneously, a parallel investigation will include a serum proteomic analysis to further our understanding of the pathophysiology underlying iMCD/TAFRO syndrome.This multi-omics approach provides a comprehensive view of the disease's molecular landscape, with the potential to identify new biomarkers and therapeutic targets. > Furthermore, patients with iMCD will have their lymph node tissue examined, as well as the cellular components found in body fluids such as pleural and abdominal effusions in patients with iMCD-TAFRO/TAFRO syndrome.Similar analytical techniques will be used in these contexts to investigate differences between various clinical subtypes of the disease, as well as variations across different lymph node histopathological types.Finally, the overarching goal is to identify biomarkers that accurately reflect the complex pathophysiological mechanisms underlying iMCD/TAFRO syndrome, paving the way for more effective diagnostic and therapeutic approaches.

[20] Dysfunctional immunoproteasomes in autoinflammatory diseases

  • Authors: H. Arimochi, Yuki Sasaki, A. Kitamura, K. Yasutomo
  • Year: 2016
  • Venue: Inflammation and Regeneration
  • URL: https://www.semanticscholar.org/paper/f8ac8f6a0b7ab08ecd814880c28ff8dfd1395a11
  • DOI: 10.1186/s41232-016-0011-8
  • PMID: 29259686
  • PMCID: 5721717
  • Citations: 9
  • Summary: Analysis of causal gene mutations, assessment of patients’ phenotypic changes, and appropriate animal models will be indispensable for clarifying the underlying mechanisms responsible for the development of autoinflammatory syndromes and establishing curative approaches.
  • Evidence snippets:
  • Snippet 1 (score: 0.498) > Improvements in genotyping efficiency, sequencing technology, and statistical methodology have made it possible for researchers to identify specific gene mutations associated with autoinflammatory syndromes. Some mutations and polymorphisms connected to dysregulated proteasome syndromes have been reported, but the functional consequences of genetic variations are not fully understood. To increase our understanding of the pathophysiology of these diseases, basic and advanced studies with tissues from patients and genetically modified animals will be required to determine how the mutations affect cellular physiology and proteasome function. Analysis of causal gene mutations, the subsequent phenotypic changes in autoinflammatory syndrome patients, and establishment of a proper animal model for these diseases will be indispensable to clarify the mechanisms of autoinflammatory syndrome development and to develop cures for these diseases.

Notes

  • This provider combines search_papers_by_relevance with snippet_search.
  • No synthesis or second-stage model call is performed.