15 citations
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December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
January 2024 in “Kafkas Universitesi Veteriner Fakultesi Dergisi” A specific genetic variation affects wool quality in sheep.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
178 citations
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May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
86 citations
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December 2002 in “Tissue Antigens” A specific gene change is linked to severe hair loss.
9 citations
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August 2013 in “Archives of Dermatological Research” A gene called BMAL1 plays a role in controlling hair growth.
75 citations
,
January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
12 citations
,
July 2015 in “Tissue Antigens” The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
2 citations
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June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
26 citations
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
118 citations
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October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
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.
14 citations
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October 2002 in “Journal of cutaneous pathology” MAP-2 is crucial for the structure of hair follicles and nails.
26 citations
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September 2010 in “Experimental Dermatology” Two gene areas linked to male pattern baldness found, more research needed.
1 citations
,
July 2023 in “Nature communications” MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
22 citations
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August 1999 in “Mechanisms of Development” Pmg-1 and Pmg-2 are new genes important for skin and mammary gland development.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
30 citations
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December 2014 in “BMC Genetics” Certain genes and proteins may influence wool growth in Aohan fine wool sheep.
45 citations
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July 2009 in “Journal of human genetics” A gene variation is linked to hair thickness in Asians.
6 citations
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May 1997 in “Journal of Dermatological Science” Researchers found a gene in hamsters that responds to male hormones and may be indirectly controlled by them.
22 citations
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June 2010 in “Experimental Dermatology” Lower MC2R expression may contribute to alopecia areata.
71 citations
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February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
2 citations
,
January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
288 citations
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January 2001 in “Journal of Biological Chemistry” Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.
February 2026 in “Small Ruminant Research” The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
8 citations
,
March 2023 in “International Wound Journal” IGF2BP3 and other m6A-related genes are linked to keloid formation and could be potential treatment targets.