1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
234 citations
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November 2009 in “American journal of human genetics” Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
37 citations
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August 2020 in “BMC Genomics” Hair greying is mainly influenced by age, with genetics playing a smaller role.
The GG genotype of the KRT71 gene leads to longer wool in Gansu alpine fine-wool sheep.
February 2024 in “BMC genomics” The TRPV3 gene variant may cause the long-haired suri alpaca coat.
54 citations
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January 2023 in “Signal Transduction and Targeted Therapy” New therapies are being developed that target integrin pathways to treat various diseases.
18 citations
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April 2010 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” The vitamin D receptor helps regulate skin and hair health independently of its usual vitamin D ligand.
March 2025 in “European Journal of Medical Genetics” Tofacitinib helped improve symptoms and hair growth in a patient with Aicardi-Goutières syndrome.
7 citations
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January 2009 in “Immunological investigations” A 3-year-old boy lost all his hair due to a rare reaction to phenobarbital, but it grew back after steroid treatment.
1 citations
,
February 2018 in “Australasian journal of dermatology” Advanced imaging techniques are crucial for accurately diagnosing Monilethrix, a rare hair disorder.
5 citations
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January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
197 citations
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June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
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.
147 citations
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January 2003 in “American journal of clinical dermatology” The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
81 citations
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June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
52 citations
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November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
40 citations
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June 2013 in “Scientific Reports” A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
12 citations
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May 2001 in “British journal of dermatology/British journal of dermatology, Supplement” A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.
9 citations
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June 2000 in “Journal of The American Academy of Dermatology” Mutation in hairless gene may increase hair loss risk.
2 citations
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June 2000 in “Journal of The American Academy of Dermatology” Mutation in hairless gene may increase hair loss risk.
1 citations
,
January 2008 in “Proceedings of the 9th World Rabbit Congress, Verona, Italy, 10-13 June 2008” Furless male rabbits grew slightly faster and heavier than furred ones, but testosterone levels were not the cause.
1 citations
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June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
8 citations
,
October 1988 in “Clinics in dermatology” The best animal model for studying male-pattern baldness is the stumptailed macaque, not rats or mice.
24 citations
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January 2000 in “Dermatology” Gene linked to common hair loss found, may lead to new treatments.
13 citations
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January 2019 in “Endocrine journal” Dihydrotestosterone treatment can help penis growth in boys with 5α-reductase deficiency but doesn't fully normalize size after puberty.
7 citations
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June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
1 citations
,
May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.