1 citations
,
April 2023 in “Animals” This study utilized EDAR gene-targeted cashmere goats to identify 732 differentially expressed genes and 140 proteins associated with abnormal hair growth, providing insights into the regulatory mechanisms of cashmere follicle development.
39 citations
,
April 2018 in “Hormones” This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.
November 2025 in “Journal of Investigative Dermatology” TEDAR is crucial for skin cell differentiation and barrier formation.
January 2002 in “映像情報メディア学会技術報告” This study found that 60% of examined prostate tumors had new somatic substitutions in the SRD5A2 gene, affecting enzyme activity and potentially influencing prostate cancer progression.
January 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identifies Armadillo Repeat Only proteins as crucial regulators of plant CNGC channels, influencing various plant functions and showcasing a unique plant-specific role in Ca2+ signaling.
2 citations
,
July 2021 in “Bali Medical Journal” In this study involving patients with coronary artery disease, a preauricular crease was present in 77% of cases, suggesting it may be worth investigating for association with the condition.
21 citations
,
March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
48 citations
,
June 2000 in “Japanese Journal of Cancer Research” This study found that dimethylarsinic acid significantly accelerates skin tumor development in hair follicle-targeted K6/ODC transgenic mice.
53 citations
,
October 2003 in “Genetics” This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.
13 citations
,
November 2018 in “Animal Genetics” This study suggests that a newly identified KRT 71 gene variant may be responsible for curly hair in Curly Coated Retrievers and potentially contributes to follicular dysplasia.
March 2021 in “Research Square (Research Square)” This study found that strontium ranelate may promote cartilage regeneration by enhancing chondrogenic differentiation and inhibiting the Wnt/β-catenin signaling pathway in rat models of cartilage defects.
This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.
2 citations
,
June 2024 in “Frontiers in Plant Science” This study found that RALF peptides, through liquid-liquid phase separation, form condensates with pectin and other proteins, playing a pivotal role in plant development and stress response regulation.
10 citations
,
November 2019 in “Journal of the European Academy of Dermatology and Venereology” This study observed distinct differences in hair characteristics between individuals with cardio-facio-cutaneous syndrome and Costello syndrome, highlighting the role of the RAS pathway in these RASopathies and aiding clinical diagnosis.
1 citations
,
January 2013 in “MedChemComm” This study characterized the SARM PF-05314882, finding it demonstrates anabolic activity in rats with minimal effects on the prostate, seminal vesicles, and luteinizing hormone levels.
5 citations
,
September 2015 in “BMC Medical Genetics” In this study, individuals with a c.1072C > T mutation in the EDAR gene showed more hair shaft deformations compared to non-mutation carriers, highlighting EDAR's role in hair follicle development.
2 citations
,
August 2023 in “Development” In this study, researchers explored how hair follicle orientation is affected in the rosette fancy mouse and found that a mutation in the PCP gene Fzd6 caused reversed hair orientations in the posterior region, leading to the formation of unique whorls.
3 citations
,
December 2022 in “The Neurologist” This report presents the first documented case of CARASIL in an Arabic patient and notes unique magnetic resonance spectroscopy findings compared to prior cases.
27 citations
,
August 2008 in “Mayo Clinic proceedings” This review discusses the diagnosis, management, and treatment options for peripheral arterial disease and does not report new clinical findings; the authors emphasize the need for early diagnosis and comprehensive management.
172 citations
,
March 2019 in “The EMBO Journal” This study found that in Arabidopsis thaliana, the interaction between extracellular leucine-rich repeat extensins and the receptor-like kinase FERONIA helps control vacuolar expansion, crucial for cellular elongation.
3 citations
,
August 2021 in “Research Square (Research Square)” This study found that increased mRNA expression of the Ectodysplasin-A2-Receptor, observed across multiple species and tissues, may exacerbate inflammation during aging, suggesting potential benefits of blocking EDA2R/EDA-A2 signaling.
73 citations
,
April 2013 in “Stem cells” This study found that LGR5 is uniquely expressed in human corneal endothelial cells and maintains endothelial cell phenotypes while inhibiting mesenchymal transformation through the Wnt pathway.
5 citations
,
January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
33 citations
,
January 2018 in “International Journal of Biological Sciences” This study demonstrates the use of the CRISPR-Cas9 system to successfully edit the EDAR gene in Cashmere goats, resulting in goats with distinct hair follicle characteristics.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” This case report details two consanguineous patients with cerebral autosomal recessive arteriopathy, both having the same HTRA1 gene mutation, but exhibiting different clinical presentations, including one with epileptic seizures and lobar hemorrhages—previously undocumented in this condition.
1 citations
,
February 2021 in “Animal biotechnology” This study found that specific variants of the KAP6-1 gene in cashmere-producing goats were associated with changes in fiber diameter and length, suggesting potential as genetic markers for fiber improvement.
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that skin pigmentation alterations in a mouse model of Carney complex may be caused by specific dermal fibroblasts promoting melanogenic signaling.
1 citations
,
September 2010 in “UEF eRepo (University of Eastern Finland)” This study provides insight into AR-mediated gene activation and the molecular mechanisms of prostate cancer progression and drug resistance, identifying potential avenues for developing new therapies.
January 2026 in “Animal Genetics” This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.
February 2021 in “Pakistan Armed Forces Medical Journal” This article presents a case study of favoure racouchot syndrome involving the scalp in a farmer, which has not been previously described as part of this condition, but offers no new research findings.