26 citations
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May 2024 in “Molecular Neurodegeneration” This review assesses existing knowledge about the 17q21.31 inversion polymorphism, highlighting its genetic structure differences across ancestries, associations with various diseases, and implications for precision medicine and drug discovery.
April 2019 in “Journal of Investigative Dermatology” In this study, engineered mice with a mutation similar to that in Olmsted syndrome showed progressive hair loss due to impaired inner root sheath keratinocyte differentiation and stem cell exhaustion.
June 2026 in “Frontiers in Oncology” In this study, researchers found that deficiencies in Gsdma1/2/3 significantly inhibited the initiation and progression of cutaneous squamous cell carcinoma (cSCC) in mice, suggesting GSDMA's role in promoting cSCC proliferation and its potential as a therapeutic target.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
182 citations
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August 2016 in “Development” This review discusses the roles and mechanisms of chromatin remodelers and their subunits in mammalian development, but reports no new experimental results.
301 citations
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May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
This study found that the FER/MLO signaling module plays a crucial role in calcium oscillations and ROS production in root hair tip growth, with the MLO15 protein regulating these processes and restoring disrupted growth and signaling in fer mutant root hairs.
January 2020 in “International Journal of Research in Pharmacy and Chemistry” This study developed a validated HPLC method for accurately estimating dutasteride and its related compounds in capsules, suitable for routine and stability sample analysis.
10 citations
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August 2023 in “The EMBO Journal” This study explored the epigenetic mechanisms of dermal fibroblast progenitor differentiation and found that the repressive chromatin profile from H3K27me3 prevents these progenitors from reforming skin in allograft assays, despite their multipotent potential.
This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.
32 citations
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March 2014 in “PLOS ONE” This study demonstrates that FMOD deficiency in mice alters TGF-β ligand and receptor expression during wound healing stages, leading to delayed wound closure and increased scar size.
March 2026 in “Calcified Tissue International” This review discusses the complex role of the EDA pathway in vertebrate skeletal development, emphasizing its interaction with other morphogenic pathways to influence skeletal diversity, but reports no new experimental results.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that stimulating olfactory receptors in human hair follicles with Sandalore® increases antimicrobial activity by upregulating dermcidin production, potentially offering a novel approach for treating hair follicle diseases with bacterial issues.
60 citations
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April 1998 in “Baillière s Clinical Endocrinology and Metabolism” This article reviews the genetic mutations causing male pseudohermaphroditism from 17 beta-HSD-3 and 5 alpha-RD-2 deficiencies and reports no new clinical findings.
June 2010 in “Chinese Journal of Dermatology” This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
5 citations
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August 2021 in “Frontiers in Cell and Developmental Biology” This study found that DHEA along with osteogenic induction medium significantly promotes the osteogenic differentiation and proliferation of human bone marrow mesenchymal stem cells from older individuals.
April 2022 in “Reactions Weekly” 5 citations
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August 2024 in “Drug Discovery Today” This review examines advances in computer-aided drug design for targeting membrane proteins in prostate cancer but reports no new clinical results; it emphasizes the potential of structural insights and compound screening for therapeutic development.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” This research highlights the potential of non-coding RNAs as biomarkers and therapeutic targets in dermatology, while experimental studies on a unique GVM case suggest CCM2L may modulate disease severity, advancing understanding of genetic mechanisms in rare skin disorders.
36 citations
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July 2014 in “Neuromuscular Disorders” This study investigated a patient with spinal and bulbar muscular atrophy who had 68 CAG repeats, revealing early onset and unique symptoms not previously documented in the condition.
1 citations
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July 2023 in “Journal of Animal Science and Biotechnology” This study discovered that lambs with coarse, ancestral-like wool in a population of modern fine wool sheep exhibited overexpression of the SOSTDC1 gene, linked to epigenetic changes, which helps understand the development and diversification of wool types in sheep breeding.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that in a mouse model of Focal Dermal Hypoplasia, treatment with lithium carbonate improved skin disease symptoms compared to controls, though disease severity varied and posed interpretation challenges.
36 citations
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March 2019 in “European Journal of Human Genetics” This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.
December 2025 in “ILDS-DEV” April 2025 in “International Journal of Clinical & Medical Case Studies” This source explains that unlike genetic hormonal alopecia, alopecia areata is associated with inflammatory factors and may also involve psychological and genetic contributions.
CaBP1 and CaBP2 are important for maintaining hearing by supporting continuous calcium currents and nerve signaling in the ear.
2 citations
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January 1998 in “Neurourology and Urodynamics” This report describes a case of adrenomyeloneuropathy where serial urodynamic studies revealed neurogenic bladder dysfunction linked to demyelinating lesions in the patient.
1 citations
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November 2025 in “International Journal of Clinical Pharmacy” This study confirms known risks of cladribine and reveals potential new safety concerns, emphasizing the need for careful monitoring for early acute toxicity.
October 2024 in “Journal of the Endocrine Society” This case study reports on a rare form of vitamin D resistant rickets in a 37-year-old male, highlighting the condition's clinical features and the necessity for a thorough understanding of calcium and vitamin D metabolism in the diagnosis and management of metabolic bone diseases.