March 2017 in “European Urology Supplements” Gene differences affect finasteride side effects in men with hair loss.
11 citations
,
January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
1 citations
,
December 2022 in “BMC Genomics” The Msx2 gene affects feather development in Hungarian white geese and a specific gene variation could indicate feather quality.
47 citations
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April 2021 in “BMC Medical Genomics” Certain gene variants can influence acne risk and severity.
17 citations
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August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
94 citations
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
3 citations
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July 2024 in “Skin Research and Technology” Asthma may increase the risk of alopecia areata.
3 citations
,
October 2024 in “Animals” An allele of the KRTAP13-2 gene may improve wool quality in sheep.
May 2012 in “Nature Genetics” Blond hair in Solomon Islanders is due to a unique genetic variant, not European ancestry.
7 citations
,
January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
11 citations
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January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
26 citations
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December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
8 citations
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December 2017 in “Small Ruminant Research” Variation in the TCHH gene affects wool curliness in sheep.
March 2011 in “European Urology Supplements” CEC levels may be a useful marker for predicting prostate cancer progression.
March 2011 in “European Urology Supplements” The document concludes that a new biosensor can efficiently detect prostate cancer cells and that standardized referrals help find significant cancers effectively.
175 citations
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August 1997 in “Nature Genetics”
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
19 citations
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August 2017 in “American journal of clinical dermatology” Hepatitis B virus exposure may be linked to increased risk of alopecia areata.
47 citations
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June 2011 in “Movement Disorders” The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
December 2010 in “OhioLink ETD Center (Ohio Library and Information Network)” Sry may regulate fatty acid metabolism and shows different expression levels in rat tissues.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
June 2025 in “British Journal of Dermatology” Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.