103 citations
,
March 2011 in “PLoS Biology” This study found that a mutation in the BMP12/GDF7 gene is associated with the Naked neck trait in chickens, reducing neck feathering due to altered signaling pathways.
40 citations
,
February 1946 in “Canadian Journal of Research/Canadian journal of research” This study observed that the hair loss in homozygous rhino mice is associated with widening of the hair canal due to hyperkeratosis, leading to insufficient support for hair anchoring.
5 citations
,
July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” This study described the clinical and genetic features of two Iranian siblings with hereditary vitamin D resistant rickets, identifying a specific VDR gene mutation contributing to their symptoms.
1 citations
,
January 2020 in “Recent Research in Genetics and Genomics/Recent Research in Genetics and Genomics ” In this study, high doses of Lepidium sativum seeds extract were reported to cause toxicity and tissue damage in animals, suggesting the need for careful use under medical supervision.
2 citations
,
January 1960 in “Australian Journal of Biological Sciences” The Naked gene in mice causes abnormal sebaceous glands and disrupts hair follicle organization.
21 citations
,
April 1982 in “Genetics Research” In this study, researchers observed that mice with the naked gene showed frequent absence of hair cuticle and cortical cells during follicle growth, with abnormal keratin deposition also noted.
9 citations
,
May 2016 in “Veterinary dermatology” This case report describes how a long-term combination of oral fatty acids and topical therapy appeared beneficial for managing autosomal recessive congenital ichthyosis in a goldendoodle with a PNPLA1 mutation.
20 citations
,
February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
52 citations
,
October 2012 in “Journal of Dermatological Science” This review presents updated tables of mouse mutants with hair growth abnormalities to aid in understanding the molecular mechanisms of human hair disorders, but reports no new clinical results.
5 citations
,
February 2019 in “PloS one” This study found that structural defects in the hair shafts of sighthounds with bald thigh syndrome are related to a downregulation of genes and proteins essential for hair shaft formation.
17 citations
,
November 2017 in “Asian-Australasian journal of animal sciences” This study found that mutations in certain keratin genes significantly affect wool traits in Chinese Merino sheep, suggesting these genes could be important for sheep breeding to improve wool quality.
September 2023 in “Frontiers in cell and developmental biology” This study found that a catalytically active version of Vav2 significantly altered gene expression patterns in hair follicle stem cells in mice, with these changes varying over the animals' lifespans.
18 citations
,
January 2015 in “Experimental Dermatology” This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
29 citations
,
August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
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.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
January 2020 in “Medical journal of clinical trials & case studies” This report details a case of dystrophic epidermolysis bullosa in a 37-year-old male with a recessive mutation in the CLO7A1 gene, affecting type VII collagen.
3 citations
,
October 2021 in “Clinical, Cosmetic and Investigational Dermatology” This review discusses the epidemiology, risk factors, clinical features, and management of scalp melanomas, highlighting their high mortality rates and specific challenges in diagnosis and treatment; it reports no new research findings.
179 citations
,
June 2000 in “The American journal of pathology” This study reports that the asebia-2J mutation in mice affects sebaceous gland function and leads to hair follicle destruction, offering a model for human scarring alopecias.
1 citations
,
November 2022 in “Diagnostics” This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.
188 citations
,
June 1998 in “Molecular cell” This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.
9 citations
,
March 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” This symposium reviewed various advances in understanding and potentially reversing skin aging, with no new experimental results reported.
2 citations
,
July 2021 in “Genes” This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.
September 2022 in “Scientific Reports” This study found that scalp melanoma often occurs in areas with androgenetic alopecia, and patients without alopecia might experience a later diagnosis due to hair coverage, leading to potentially worse outcomes.
22 citations
,
August 2020 in “Cells” This review discusses the role of TGM3 in skin and hair follicle biology, human tumor pathology, and genetic abnormalities, and reports no novel results; the authors highlight its potential as a cancer diagnostic biomarker.
1 citations
,
September 2023 in “Animals” This study found that genetic variants in the goat KRTAP22-2 gene are associated with the mean fiber diameter of cashmere in Longdong Cashmere goats, suggesting these variants could serve as molecular markers for improving cashmere traits.
September 2017 in “Pediatric Dermatology” The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
1 citations
,
July 2024 in “Indian Journal of Case Reports” This article presents a case study of a 16-year-old male with GAPO syndrome, characterized by growth retardation, alopecia, pseudoanodontia, and optic atrophy, who sought dental treatment for missing teeth.