29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her 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.
12 citations
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December 2003 in “Gene” The ovine Hoxc-13 gene is crucial for hair formation and may have other skin functions.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
21 citations
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December 1994 in “Journal of Investigative Dermatology”
2 citations
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April 2013 in “Expert Review of Endocrinology & Metabolism” Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
January 2011 in “The Chinese Journal of Dermatovenereology” Shorter GGN repeats in the androgen receptor gene are linked to androgenetic alopecia.
181 citations
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January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
3 citations
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June 2020 in “Open access rheumatology” A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
26 citations
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March 1995 in “Differentiation” A rabbit gene important for hair development was identified and detailed.
1 citations
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January 2020 in “Research Square (Research Square)” Inherited color dilution in Rex rabbits is linked to DNA methylation changes in hair follicles.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
April 2023 in “Journal of Investigative Dermatology” IL-17 plays a key role in severe hair loss in chronic alopecia areata.
16 citations
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September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
8 citations
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October 2019 in “Immunological investigations” The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
3 citations
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January 2018 in “Postępy Dermatologii i Alergologii” Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
4 citations
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June 2020 in “DOAJ (DOAJ: Directory of Open Access Journals)” A woman with Rhupus and Rowell syndrome was treated successfully with medication adjustments.
22 citations
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June 1994 in “Journal of Investigative Dermatology” 14 citations
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February 2008 in “Stem Cells and Development” Seven genes are highly expressed in both germ-line and hematopoietic stem cells.
December 2022 in “Frontiers in plant science” CCDC22 and CCDC93 are essential for root and root hair growth in Arabidopsis.
55 citations
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November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
January 2008 in “US endocrinology” Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.
3 citations
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April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
July 2024 in “Journal of Investigative Dermatology” January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
A specific gene change in APCDD1 increases the risk of hair loss.