March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
43 citations
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April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
309 citations
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June 2001 in “Molecular and Cellular Endocrinology” Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
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.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
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.
April 2021 in “Journal of Investigative Dermatology” People with atopic dermatitis have more CD4+ T cells that respond to a certain bacterial lipid, which may play a role in the skin condition's inflammation.
1 citations
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January 2017 in “The Annals of Clinical and Analytical Medicine” Vitamin D receptor gene changes don't affect alopecia areata risk.
2 citations
,
July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
September 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” GLABRA2 gene controls root-hair growth by regulating phospholipid signaling.
3 citations
,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
November 2023 in “Scientific reports” The research identified and described a gene important for hormone conversion in endangered catfish, which varies in activity during different reproductive stages and after hormone treatment.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
November 2025 in “American Journal of Case Reports” Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
The transcription factor Meis2 is essential for touch sensation and proper nerve development in touch receptors.
44 citations
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December 2005 in “Journal of Investigative Dermatology” Certain genetic markers, especially the MICA gene, are linked to alopecia areata.
13 citations
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September 2007 in “International Journal of Dermatology” Vitamin D receptor gene variations are not linked to alopecia areata.
23 citations
,
August 2018 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” Different sPLA2 enzymes affect immunity, skin and hair health, reproduction, and may be potential targets for therapy.
3 citations
,
June 2004 in “Työväentutkimus Vuosikirja” Ectodermal dysplasia syndromes are caused by disruptions in key signaling pathways affecting tooth and hair development.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
12 citations
,
February 2021 in “Translational Psychiatry” Researchers found two new genetic variants linked to Alzheimer's disease.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
21 citations
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March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
27 citations
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October 2011 in “British Journal of Dermatology” ESR2 gene variations may be linked to female pattern hair loss.
5 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.