1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
17 citations
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June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mutations in hKAP1 genes may cause hereditary hair disorders.
29 citations
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December 2016 in “The EMBO Journal” Gata6 is important for protecting hair growth cells from DNA damage and keeping normal hair growth.
8 citations
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January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
1 citations
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January 2012 The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
April 2018 in “Journal of Investigative Dermatology” CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
2 citations
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August 2021 in “Animal Cells and Systems” Egfl6 is not needed for zebrafish face development.
5 citations
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March 2005 in “Journal of The American Academy of Dermatology” 5 citations
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August 2005 in “Archives of Dermatological Research” HSPC016 gene is important for hair growth.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
92 citations
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January 2012 in “International Journal of Biological Sciences” The document introduced a new naming system for keratin-associated proteins to improve clarity and communication across species.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
July 2024 in “Journal of Investigative Dermatology” Inhibiting PDE8A may help treat hair loss by boosting fat cell growth and hair regeneration.
13 citations
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February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
53 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” KAP genes show significant genetic variability, but its impact on hair traits is unclear.
1 citations
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April 2025 in “BMC Veterinary Research” PSAT1 is key for hair growth and stem cell function in cashmere goats.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
2 citations
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January 2025 in “动物学研究” YAP1 helps fat cell formation by influencing the Hippo pathway.
12 citations
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August 2011 in “Asian-Australasian Journal of Animal Sciences” KAP8.1 gene variations affect cashmere weight in Inner Mongolian goats.
1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
6 citations
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July 2021 in “Frontiers in Genetics” A gene variant causes a skin and hair disorder by disrupting protein balance.
24 citations
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February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Two new proteins, hKAP1.6 and hKAP1.7, are found in the hair follicle cortex.
January 2007 in “Journal of Inner Mongolia University” The research helps in creating genetically modified animals to study hair growth.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
6 citations
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November 2019 in “The application of clinical genetics” The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.
April 2018 in “Journal of Investigative Dermatology” The protein DDX6 helps keep skin cells renewing properly by controlling the production of certain other proteins and breaking down those that cause cells to mature too quickly.