January 2026 in “PLoS Biology” ARHGEF3 is essential for proper hair follicle development in mice.
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
32 citations
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August 2016 in “Science Signaling” Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
August 2025 in “Dermatopathology” Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
CAG repeat numbers in the AR gene likely don't affect male pattern baldness in Korean men.
78 citations
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August 1996 in “The Journal of Clinical Endocrinology & Metabolism” The same gene mutation can cause different symptoms in family members.
3 citations
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
14 citations
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March 2015 in “Stem Cell Research & Therapy” ABCG2 protein marks stem-like skin cells in human epidermis.
1 citations
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April 2025 in “Animals” The KRTAP13-3 gene affects wool fibre diameter variability in Chinese Tan sheep.
9 citations
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April 2020 in “Journal of dermatology” A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
9 citations
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November 2013 in “Journal of Investigative Dermatology” Overexpressing CtBP1 in skin cells causes skin and hair problems.
January 2007 in “Journal of Inner Mongolia University” The research helps in creating genetically modified animals to study hair growth.
August 2016 in “Journal of Investigative Dermatology” The enzyme CD73 helps control human hair growth and could be targeted to treat hair growth disorders.
2 citations
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December 2013 in “Journal of dermatology” A specific gene mutation causes a rare hair loss condition in a Chinese patient.
82 citations
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April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
1 citations
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October 2024 in “Medicina” CLEC4D gene variants may increase the risk of alopecia areata in Jordanians.
25 citations
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November 2018 in “Cell reports” The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
51 citations
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January 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” Scientists discovered a unique hair protein, KAP24.1, with a special structure, found only in the upper part of hair cuticles.
26 citations
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May 2020 in “JCI Insight” Alopecia areata involves specific immune cells, offering potential treatment targets.
96 citations
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June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
29 citations
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January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
2 citations
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December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
117 citations
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April 2008 in “Developmental biology” Ectodysplasin inhibits Wnt signaling to help form hair follicles.
31 citations
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October 2010 in “Progress in lipid research” LPA3 is crucial for embryo implantation and links LPA to prostaglandin signaling.
August 2022 in “Precision Clinical Medicine” JAM-A helps hair regrowth in alopecia areata by protecting VCAN in skin cells.
KRTAP6 genes affect wool quality in sheep.
475 citations
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October 2006 in “Proceedings of the National Academy of Sciences” Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
65 citations
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November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
1 citations
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April 2017 in “Journal of Investigative Dermatology” CCL5 is important for the hair growth potential of human dermal papilla cells.