14 citations
,
September 1999 in “Journal of Investigative Dermatology” Lack of TrkC receptor delays hair follicle development.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers found that the NUDT15 R139C gene variant is a significant genetic risk factor for azathioprine-induced severe myelotoxicity in Japanese patients with dermatological conditions, suggesting that screening for this variant may help prevent adverse reactions in East-Asian populations.
124 citations
,
November 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that human peptidylarginine deiminase type III is the predominant isoform in hair follicles and may modulate structural proteins during hair and hair follicle formation.
72 citations
,
July 2012 in “Journal of Investigative Dermatology” This study found that mice with a specific loss of DNA methyltransferase 1 showed uneven epidermal thickness, reduced hair regeneration, and progressive alopecia, emphasizing DNA methylation's role in stem cell homeostasis.
2 citations
,
July 2017 in “Oncology Letters” This study found that ablating cyclin D3 in a Ras-dependent skin carcinogenesis model increased apoptosis in hair follicles, reducing papilloma development but potentially facilitating malignant progression when CDK6 is overexpressed.
41 citations
,
July 2016 in “Journal of Investigative Dermatology” This study identified molecular differences between dysplastic nevi and common melanocytic nevi, including altered keratinocyte differentiation, increased hair follicle-related molecule expression, and distinct immune microenvironment characteristics in dysplastic nevi.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
April 1974 in “Pediatric Research” This study found that hair from mice with the Naked trait mutation has significantly lower levels of glycine and tyrosine, suggesting a deficiency in a specific protein fraction.
March 2025 in “American Journal of Medical Genetics Part A” In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
8 citations
,
July 2015 in “International Journal of Dermatology” This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.
January 2004 in “Molecular biotechnology” 24 citations
,
December 2013 in “Archives of Dermatological Research” 26 citations
,
April 2011 in “British Journal of Dermatology” This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.
1 citations
,
July 2025 in “Journal of Investigative Dermatology” Increasing m6A levels can improve skin cell growth and wound healing.
16 citations
,
May 2000 in “Endocrinology” This study identified a new gene, mrp4, in mice, which suggests it may have a unique role in the growth and development of hair follicles in the ears and tails.
3 citations
,
January 2016 In this study, NuMA's microtubule-binding domain was found to be crucial for correct spindle orientation and skin differentiation, with its loss leading to neonatal lethality in mice.
76 citations
,
January 1998 in “Mammalian Genome”
2 citations
,
October 2023 in “Philosophical transactions - Royal Society. Biological sciences” This article reports that mutations in the PADI3 gene, affecting its activity or localization, cause uncombable hair syndrome and are linked to central centrifugal cicatricial alopecia, particularly among women of African ancestry.
3 citations
,
September 2022 in “Animal biotechnology” This study found that knocking down lncRNA MTC in Liaoning Cashmere goat skin fibroblasts inhibited cell proliferation and increased apoptosis, suggesting its role in facilitating cell growth by regulating specific proteins.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.
This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
3 citations
,
December 2024 in “Journal of Animal Science” In this study, researchers identified the lncRNA MSTRG.14227.1 in cashmere goats and found it inhibits the morphogenesis of secondary hair follicles by interacting with the chi-miR-433/ADAMTS3 signaling axis, affecting cashmere yield and quality.
25 citations
,
May 2004 in “Prenatal Diagnosis” This study suggests that prenatal genetic diagnosis of MELAS syndrome using amniotic cells may not reliably predict fetal outcomes due to phenotypic diversity observed in siblings with similar levels of mutant mtDNA.
This study identified specific lncRNAs and mRNAs differentially expressed in miniaturized follicles compared to normal follicles in patients with androgenetic alopecia, with AL136131.3 potentially inhibiting hair growth and accelerating follicle transition to catagen through effects on glycolysis-related genes.
4 citations
,
January 2023 in “Journal of Clinical Investigation” This study identified a recurrent mutation in the endothelin receptor type A associated with mandibulofacial dysostosis with alopecia, and proposed a mechanism involving increased ligand affinity due to structural changes.
December 2024 in “European journal of medical research” This study suggests that the NCSTN knockout mouse could serve as an HS animal model, with tamoxifen potentially used for gene deletion in mice.
42 citations
,
May 1997 in “The Journal of Biochemistry” In this study, researchers purified and cloned rat peptidylarginine deiminase type III, demonstrating its activity and specific expression in the epidermis and hair follicles.
119 citations
,
November 2016 in “American journal of human genetics” This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.