46 citations
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April 1987 in “Brain Research” This study suggests that hair-follicle afferent axons can be presynaptically inhibited by boutons containing the enzyme glutamic acid decarboxylase, which is linked to the synthesis of γ-aminobutyric acid.
In this study, thalamic GABAA receptor α4 subunit levels were regulated after acute and chronic ethanol exposure, with temporal expression changes affected by phosphorylation state and neuroactive steroids.
47 citations
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April 2000 in “Experimental Dermatology” This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.
1 citations
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September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
5 citations
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June 2023 in “BMC genomics” This study found that a specific genetic mutation in the Fgf5 gene may contribute to the long-hair trait in Angora rabbits by reducing the binding capacity of the FGF5 protein.
1 citations
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September 2017 This study found that the combination of Stemoxydine® and Resveratrol improved hair density in women with Female Pattern Hair Loss.
19 citations
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December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.
September 2017 in “Journal of Investigative Dermatology” This study found that in AGA, the risk allele at locus 2q35 alters WNT10A expression through EBF1, suggesting a potential androgen-dependent regulatory mechanism.
12 citations
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July 2015 in “Experimental Dermatology” This study found that overexpression of Gsdma3 in mice led to epidermal hyperplasia, skin inflammation, and hair growth defects, suggesting gain-of-function mutations in Gsdma3 cause these conditions.
56 citations
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December 2011 in “The Plant Journal” AGD1 is important for root hair development in Arabidopsis, working with phosphoinositide signaling and the actin cytoskeleton.
10 citations
,
June 2021 in “Journal of Investigative Dermatology” GNPTAB gene is crucial for normal hair color in humans and mice.
16 citations
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September 2014 in “International Journal of Biological Markers” This study found that the less common CAG-rs4045402 and GGN-rs3138869 polymorphisms were more frequent in patients with post-finasteride syndrome and androgenetic alopecia, suggesting a genetic predisposition to AGA development.
69 citations
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December 2015 in “BMC plant biology” This study provides evidence that five Hyp-O-GALT genes are crucial for AGP galactosylation and that AGP glycans are vital for various aspects of plant growth and development.
28 citations
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August 2014 in “Journal of Assisted Reproduction and Genetics” This study found that the VEGF +405G/C polymorphism may be an inheritable risk factor for polycystic ovary syndrome in south Indian women.
260 citations
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July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
October 2025 in “Proceedings of the National Academy of Sciences” This study identifies the PI4P-RHD4 module as a key regulator of GET pathway receptor dynamics in Arabidopsis, affecting TA protein insertion and root hair growth.
This study found that in mice, the epidermal microenvironment reverses the oncogenic effects of GNAQQ209L in melanocytes, inhibiting their survival and proliferation through paracrine signals.
11 citations
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June 2012 in “Acta histochemica” This study found that Gsdma3 mutations in mice led to thicker skin and longer hair infundibula, possibly by negatively regulating β-catenin expression in the epidermis.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
11 citations
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October 2002 in “Genetics” This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.
1 citations
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October 2020 in “Research Square (Research Square)” This study identified a 505-bp indel variant in the FGF5 gene associated with cashmere growth in goats, which may serve as a molecular marker in cashmere goat breeding programs.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
In this study, researchers used the CRISPR/Cas9 system to edit the FGF5 gene in Dorper sheep, observing increased density and finer wool, along with changes in cortisol levels and antioxidant enzyme activity linked to hair follicle development.
1 citations
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January 2020 in “Benha Journal of Applied Sciences” This study found that DEFB1 polymorphisms, specifically the rs1800972 CG and GG genotypes, may predict susceptibility to and severity of alopecia areata.
19 citations
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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.
53 citations
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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.
136 citations
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July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” This study identified mutations in the FGF5 gene as a cause of extreme eyelash growth in Pakistani families, highlighting a potential target for regulating eyelash growth.
December 2020 in “Research Square (Research Square)” This study identifies a strong association between a 505-bp indel mutation in the FGF5 gene and cashmere growth in goats, suggesting potential use as a genetic marker in breeding programs.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.