174 citations
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July 2003 in “The Journal of Clinical Endocrinology & Metabolism” Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
April 2019 in “Journal of the Endocrine Society” Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The study developed a mouse model for Alopecia Areata that responds to treatment, useful for future research.
17 citations
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November 2017 in “Asian-Australasian journal of animal sciences” Certain gene mutations are linked to wool quality in sheep and could help in breeding for better wool.
October 2025 in “Frontiers in Medicine” Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
51 citations
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December 2006 in “Mammalian Genome”
5 citations
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December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
July 2022 in “The Egyptian Journal of Hospital Medicine” Targeting IL-15 may help treat Alopecia Areata.
13 citations
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July 2012 in “Pigment Cell & Melanoma Research” A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
Certain gene variations and different levels of BDNF and CRH hormones are linked to vitiligo.
2 citations
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
51 citations
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January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
June 2014 in “The Journal of Dermatology” A patient with a rare chromosome condition also had a rare type of hair loss.
37 citations
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January 2008 in “Gynecological Endocrinology” Shorter CAG repeats in a specific gene may increase male hormone activity and symptoms like acne and excess hair in women with PCOS.
38 citations
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February 1988 in “Molecular and Cellular Biology” Only one of the two K16 genes on chromosome 17 makes a functional protein for keratin filaments.
1 citations
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November 2018 in “immuneACCESS” Expanded CD8+ T cells are linked to Alopecia Areata and may cause relapse after treatment.
July 2021 in “British Journal of Dermatology” The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
February 2018 in “PubMed” Society's pressure to have children later in life favors genes that increase the risk of early baldness in male offspring.
6 citations
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March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
Amino acid storage proteins are essential for maintaining stem cells in female fruit flies.
46 citations
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September 2007 in “Journal of Investigative Dermatology” September 2023 in “Journal of the American Academy of Dermatology” Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
60 citations
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March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
October 2023 in “Benha Journal of Applied Sciences” PPAR-γ may be a key target for treating alopecia areata and other skin conditions.
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.
7 citations
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September 2024 in “BMC Genomics” Two genes, ERBB4 and ROR1, may cause the unique pigmentation in Lanping black-boned sheep.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.