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.
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.
1 citations
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September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
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.
7 citations
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May 2010 in “Journal of Cutaneous Pathology” A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
24 citations
,
December 2019 in “PLoS ONE” The BHBS is a valid tool to study cultural norms and breast cancer risk in Black women.
October 2020 in “Journal of the American Society of Nephrology” Drospirenone can hide symptoms of certain hormonal disorders, complicating diagnosis.
11 citations
,
October 2002 in “The Journal of Clinical Endocrinology & Metabolism” Enzyme activities do not cause early pubic hair in these girls.
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.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
35 citations
,
April 2009 in “Journal of Neuroscience Research” HDAC inhibitors help brain cells grow and improve brain function.
1 citations
,
July 2024 in “International Journal of Biological Research” Parental socioeconomic status doesn't improve dietary habits or reduce disease severity in children with sickle cell disease.
11 citations
,
July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
28 citations
,
August 2003 in “Steroids” Hirsute women have lower type 2 17β-HSD enzyme levels, which improve with treatment.
January 2023 in “BOĞAZİÇİ TIP DERGİSİ” High insulin levels may increase the risk of pilonidal sinus disease in female teens.
16 citations
,
April 2024 in “Proceedings of the National Academy of Sciences” HDAC4 and HDAC7 are crucial for Th17 cell development and could be targeted to treat inflammatory diseases.
1 citations
,
May 2019 in “Journal of The European Academy of Dermatology and Venereology” New method, hair distribution width (HDW), improves accuracy in diagnosing androgenetic alopecia (AGA).
51 citations
,
November 2011 in “British Journal of Dermatology” A gene called HDAC9 might be a new factor in male-pattern baldness.
1 citations
,
May 2004 in “Biochemical and Biophysical Research Communications” Two new gene clusters important for hair formation were found on human chromosome 11.
33 citations
,
October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
6 citations
,
April 2012 in “Journal of Oral Pathology and Medicine” Rushton's hyaline bodies form from hair keratin and blood substances.
June 2021 in “International journal of research in dermatology” A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
April 2023 in “Journal of Investigative Dermatology” Skin cells and immune cells change in a skin condition called hidradenitis suppurativa, and a certain treatment can improve these changes.
24 citations
,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
10 citations
,
September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
15 citations
,
January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
January 2026 in “Biomaterials” 12 citations
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December 2013 in “Immunological Investigations” The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.
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.