9 citations
,
November 2013 in “Journal of Investigative Dermatology” This study found that transgenic mice with keratinocyte-specific overexpression of CtBP1 exhibited abnormal hair follicle development, suggesting CtBP1 may play a pathogenic role in hair morphogenesis.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.
11 citations
,
May 2012 in “Genesis” This study in mutant mice found that Bmpr2 and Acvr2a are individually redundant, but together essential for normal hair follicle development, with their reduction causing rapid hair cycling and graying.
11 citations
,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study in mice suggests that defects in hair follicles with mesenchymal TSC2 disruption may result from an impaired TGFβ1 response, indicating a potential novel treatment approach for tuberous sclerosis complex.
March 2026 in “Folia Histochemica et Cytobiologica” This review highlights LTBP1 as a critical integrator in disease processes, showing its dual role in cancer progression and suppression, its pathological influence in fibrosis, and its contribution to various disorders, suggesting its potential as a biomarker and therapeutic target.
August 2019 in “Journal of Invertebrate Pathology” This study observed that different alkaline buffers had a significant impact on the volume of liquid consumed by fall armyworm larvae, emphasizing the importance of measuring imbibed volumes to reduce dose errors in bioassays.
75 citations
,
October 2010 in “Mammalian genome” In this study, specific genetic polymorphisms in the KRT71 gene were associated with hairless and curly phenotypes in Sphynx and Devon Rex cats.
9 citations
,
November 2019 in “Cell calcium” This study found that a mutation causing Stormorken syndrome in mice led to skeletal abnormalities and unusual hair growth, showcasing the STIM1 R304W protein’s role in bone development and cell fate.
35 citations
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August 2006 in “Molecular genetics and metabolism” This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.
31 citations
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February 2007 in “Molecular Carcinogenesis” This study found that transgenic mice overexpressing human ATF3 showed hyperplastic and dysplastic changes in epithelial tissues, with a high incidence of oral cancer, suggesting potential oncogenic properties of ATF3.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
August 2026 in “International Journal of Pharmaceutical and Clinical Research” This review synthesizes knowledge on HTRA1-associated disorders, highlighting how mutations in the HTRA1 gene are linked to cerebral small vessel disease and systemic conditions, and discusses emerging diagnostic and therapeutic strategies aimed at precision medicine.
21 citations
,
January 2018 in “Anticancer Research” This study suggests that NBCCS and BFHS may be the same genetic condition, which could help improve identification and management of misdiagnosed cases with specific surveillance strategies.
17 citations
,
August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
This study found that loss of the DNA methyltransferase Dnmt3a, but not Dnmt3b, increased carcinogen-induced squamous tumors in murine epidermis, with combined deletion leading to more aggressive and metastatic carcinomas.
April 2026 in “Communications Biology” In this study of Danioninae species, researchers reported that the presence of breeding tubercles on the pectoral fins is conserved in certain species and linked to local androgen conversion, with steroid 5-α-reductase playing a crucial role in their development.
44 citations
,
February 2012 in “The journal of neuroscience/The Journal of neuroscience” This study observed that Ptprq mutant mice exhibit significant abnormalities in hair bundle structure and vestibular dysfunction, suggesting similar issues may contribute to hearing loss and vestibular problems in humans with PTPRQ mutations.
11 citations
,
January 1989 This case report describes two patients with trichothiodystrophy who exhibited a different pattern of hair protein composition changes, suggesting a subgroup of TTD characterized by partial loss of high-sulfur proteins without significant alteration in their amino acid composition.
August 2020 in “Pakistan Journal of Zoology” This study identified a novel genetic mutation, c.429delC in the hairless gene, associated with atrichia with papular lesions in two Pakistani families.
88 citations
,
August 2019 in “Nature communications” In this study, researchers identified a specific T cell receptor associated with carbamazepine-induced severe cutaneous adverse reactions, demonstrating its potential for therapeutic development in patients with the HLA-B*15:02 genotype.
1 citations
,
February 2025 in “Journal of the Neurological Sciences” This study suggests that BTP levels in cerebrospinal fluid might help diagnose CIDP and predict therapy response but require validation in larger cohorts.
50 citations
,
February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
9 citations
,
January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
344 citations
,
May 2018 in “EMBO journal” This review discusses the regulation of the MiT-TFE family transcription factors, particularly TFEB, through phosphorylation-mediated subcellular localization and reports no new clinical results.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This case report describes a 15-year-old girl with features of Becker naevus syndrome, highlighting the importance of DNA analysis from skin to confirm the diagnosis after 9 years of symptoms.
181 citations
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January 2009 in “Nature Genetics” In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.
19 citations
,
February 2001 in “Journal of paediatrics and child health” This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.
March 2026 in “Bioengineering & Translational Medicine” This study reported that a modified version of Thymosin beta 4, called PEG-rTβ4, demonstrated potential as a treatment for acute myocardial infarction by improving cardiac function and reducing cell death via specific biochemical pathways, suggesting its promise in drug development efforts.
27 citations
,
October 2011 in “British Journal of Dermatology” This study builds on previous findings by associating female pattern hair loss with gene polymorphisms related to oestrogen activity, suggesting oestrogen's role in the condition.