2 citations
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July 2019 in “PLOS ONE” Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
3 citations
,
January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
2 citations
,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The new method found new shared genetic areas linked to both Type 2 Diabetes and Prostate Cancer.
56 citations
,
January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
February 2024 in “BMC genomics” The TRPV3 gene variant may cause the long-haired suri alpaca coat.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
11 citations
,
August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” The EDAR V370A allele in East Asians likely evolved due to reliance on aquatic resources providing essential nutrients.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” The EDAR V370A allele in East Asians likely evolved due to reliance on aquatic resources providing essential nutrients.
November 2022 in “Journal of Investigative Dermatology” The research found specific genes that are more active in balding cells, which could be causing hair loss.
112 citations
,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Different types of PPARγ are found in varying amounts in human skin and its parts, which could affect how skin treatments work.
27 citations
,
June 2015 in “Journal of Investigative Dermatology” TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
January 2025 in “Cellular and Molecular Biology” The PIP5K1A gene helps cashmere growth in goats by promoting cell proliferation, and melatonin boosts its expression.
10 citations
,
August 2020 in “Drug metabolism and drug interactions” The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
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.
14 citations
,
July 2021 in “Bioinformatics” rPanglaoDB helps study rare cell types by merging RNA data, showing fibrocytes aid in healing.
9 citations
,
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.
10 citations
,
November 2016 in “Clinical and experimental dermatology” PAS III can cause multiple autoimmune diseases with noticeable skin issues.
4 citations
,
October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
1 citations
,
September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
16 citations
,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
140 citations
,
October 2008 in “Nature Genetics” 28 citations
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November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
8 citations
,
March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
12 citations
,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.