January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
15 citations
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August 2019 in “F1000Research” CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
6 citations
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January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” ARQ-234, a protein designed to treat atopic dermatitis, shows increased effectiveness in early testing.
January 2006 in “Advances in developmental biology” The Hairless gene is crucial for healthy skin and hair growth.
5 citations
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January 1993 in “PubMed” Retinoic acid can change skin structures in vertebrates, like turning scales into feathers or hair buds into glands.
15 citations
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June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
84 citations
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September 2008 in “Developmental biology” Retinoic acid-binding proteins in skin are regulated by β-catenin and Notch signalling.
34 citations
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June 2005 in “Developmental dynamics” Runx3 helps determine hair shape.
6 citations
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January 2017 in “Advances in Experimental Medicine and Biology” Runx genes are important for stem cell regulation and their roles in aging and disease need more research.
46 citations
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August 2006 in “Mechanisms of Development” Runx1 is crucial for proper hair structure and development.
February 2025 in “International Journal of Molecular Sciences” RORA plays a key role in controlling seasonal hair molting by affecting hair follicle cell activity.
April 2026 in “Current Opinion in Genetics & Development” RNA is crucial for controlling cell flexibility and regeneration.
14 citations
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April 2013 in “Journal of dermatological science” Hairless protein reduces Msx2 gene activity, affecting hair follicle development.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
January 2025 in “Cell Communication and Signaling” CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
18 citations
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April 2001 in “Bioorganic & Medicinal Chemistry Letters” The nature of the side chain in RU 58841 derivatives greatly affects its AR affinity, with the N-(iodopropenyl) derivative 13 showing the highest AR binding affinity, suggesting its potential for developing high-affinity radioiodinated AR radioligands.
June 2025 in “International Journal of Molecular Sciences” LncRNAs play a crucial role in muscle regulation and could help develop treatments for Duchenne muscular dystrophy.
82 citations
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April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
7 citations
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January 2021 in “Frontiers in genetics” Inherited color dilution in rabbits is linked to DNA methylation changes.
10 citations
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February 2008 in “Photochemistry and photobiology” Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
34 citations
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March 2007 in “Biochemical and Biophysical Research Communications” Thioredoxin reductase 1 does not affect glucocorticoid receptor activity in hair follicle cells.
March 2008 in “The Knowledge Bank (The Ohio State University)” SARM-induced changes in the androgen receptor are specific to each ligand and affect stability and protein interactions.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
39 citations
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August 1998 in “FEBS Letters” Two new enzymes, PAD-R11 and PAD-R4, were cloned and showed activity, with PAD-R11 resembling epidermal enzymes.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
9 citations
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January 2011 in “EXPERIMENTAL ANIMALS” A new rat strain with a specific gene mutation causes hair loss and kidney issues.