47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
74 citations
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January 2013 in “Journal of Investigative Dermatology” Four genetic risk spots found for hair loss, with WNT signaling involved and a link to curly hair.
1 citations
,
November 2023 in “Chemical and Biological Technologies in Agriculture” JUNB boosts hair growth in goats by helping specific skin cells multiply.
September 1999 in “Molecular Carcinogenesis” Increased ODC expression makes normally tumor-resistant mice more prone to tumor development.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
May 2026 in “Research Square” The polyG fragment in Hoxc13 protein helps evolve mammalian skin and hair by enhancing gene interactions.
2 citations
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May 2022 in “The journal of immunology/The Journal of immunology” BST2 protein and certain T cells increase in early alopecia areata.
January 2024 in “Genetics in Medicine Open” A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
2 citations
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April 2025 in “Frontiers in Genetics” The ASIP gene is crucial for determining cattle coat color.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
28 citations
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August 2014 in “Journal of Assisted Reproduction and Genetics” The VEGF +405G allele may increase the risk of PCOS in South Indian women.
May 2024 in “JCI insight” A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
24 citations
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July 1994 in “Molecular Endocrinology” Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
1 citations
,
March 2024 in “Genes & Diseases” EBF1 controls hair type and length.
56 citations
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September 2010 in “Veterinary pathology” Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.
January 2026 in “Dermatologic Therapy” Higher RBP4 levels are linked to severe alopecia areata, but genetic variant rs3758539 doesn't affect baricitinib response.
103 citations
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March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
January 2000 in “Cambio 16” Bcl-2 affects hair growth and pigmentation by controlling cell death.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Three genes linked to the development of trichilemmal cysts were found.
December 2020 in “Research Square (Research Square)” A genetic change in the FGF5 gene affects hair growth in cashmere goats.
May 2023 in “The Journal of Immunology” BST2 is a key marker for hair loss disease alopecia areata.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
1 citations
,
September 2023 in “Animals” A new goat gene affects cashmere fiber thickness; certain variations can make the fibers coarser.
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.
43 citations
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November 2018 in “Nature Communications” Genetic variations affecting skin structure play a key role in severe acne.
18 citations
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July 2016 in “Genetica” BMP4 gene is crucial for hair follicle development in Liaoning cashmere goats.
2 citations
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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.
June 2024 in “British Journal of Dermatology” Black women with CCCA are more likely to have uterine fibroids.
5 citations
,
January 2016 in “Genetics and molecular research” Certain genetic variations in the A2M gene are linked to better milk quality in Murrah buffaloes.