7 citations
,
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.
19 citations
,
May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
April 2021 in “Journal of Investigative Dermatology” A trial showed that a new treatment is safe and effective for male pattern baldness, with most participants growing new hair.
1 citations
,
December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
January 2023 in “BOĞAZİÇİ TIP DERGİSİ” High insulin levels may increase the risk of pilonidal sinus disease in female teens.
4 citations
,
January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
31 citations
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March 1995 in “Journal of Investigative Dermatology” Lhx2 helps retinal cells respond to signals for eye development.
1 citations
,
April 2017 in “Journal of Investigative Dermatology” A new one-step test can quickly identify skin cancer during surgery.
33 citations
,
October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
1 citations
,
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” People with Hidradenitis Suppurativa have less diverse skin bacteria and different bacterial metabolism than healthy individuals.
119 citations
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August 2010 in “Journal of Investigative Dermatology” Increased 11β-HSD1 activity in skin may contribute to aging and could be targeted to reduce aging effects.
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.
175 citations
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September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
45 citations
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March 1997 in “Journal of Investigative Dermatology” 60 citations
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October 2020 in “Nature Communications” AP-1 and TGFß work together to drive resistance in basal cell carcinoma, suggesting new treatment options.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
18 citations
,
January 2021 in “Skin Research and Technology” High-frequency ultrasound effectively measures basal cell carcinoma depth.
October 2022 in “Dermatology practical & conceptual” People with hidradenitis suppurativa are more likely to have bipolar disorder than those with psoriasis or without skin conditions.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
51 citations
,
November 2011 in “British Journal of Dermatology” A gene called HDAC9 might be a new factor in male-pattern baldness.
3 citations
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September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
179 citations
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May 1982 in “The Journal of clinical investigation/The journal of clinical investigation” High levels of 3 alpha-diol glucuronide in the blood are a marker of increased androgen action in women with excessive hair growth of unknown cause.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
A new genetic mutation was found causing hair and eye issues in a boy.
130 citations
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March 2014 in “Proceedings of the National Academy of Sciences of the United States of America” Epidermal Wnt/β-catenin signaling controls fat cell formation and hair growth.
63 citations
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August 2022 in “Diagnostics” Hirsutism can occur in women with PCOS even if their androgen levels are normal, making diagnosis challenging.