January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
17 citations
,
May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
January 2023 in “Indian dermatology online journal” A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
March 2026 in “Sexual Development” Tortoiseshell tomcats with XX/XY chimerism can be fertile.
7 citations
,
March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
60 citations
,
March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
2 citations
,
January 1993 Trichohyalin is a versatile protein involved in hair and skin structure.
7 citations
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January 2019 in “Postepy Dermatologii I Alergologii” Certain gene variations might be linked to severe acne in women but not in men.
5 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
Defective protein folding due to a mutation is key in ANE syndrome.
January 2025 in “Kuwait Journal of Science” KRT71 gene variants may influence camel hair shape but don't fully explain it.
7 citations
,
February 2012 in “British Journal of Dermatology” TH antibodies in vitiligo and AA patients recognize the same protein parts.
26 citations
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December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
3 citations
,
December 2013 in “Balkan Journal of Medical Genetics” Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
October 2022 in “BMC genomics” RNA editing significantly affects hair growth and follicle cycling in the Tianzhu white yak.
1 citations
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June 2011 in “Journal of Genetics” Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
November 2023 in “Advanced Science” A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.
13 citations
,
January 1985 in “International Journal of Dermatology” The document found differences in lesion distribution and microscopic features among trichostasis spinulosa and similar skin conditions.
November 2005 in “Journal of Investigative Dermatology Symposium Proceedings”
11 citations
,
March 2013 in “Gene” A certain genetic variation in the IL1A gene may lower the risk of a hair loss condition in Chinese people.
299 citations
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March 2001 in “Journal of Investigative Dermatology” Male pattern baldness is linked to specific genetic variations in the androgen receptor gene.
January 2022 in “Revista Dermatológica Centro Uraga” Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
72 citations
,
October 2009 in “The FASEB journal” TRH stimulates human hair growth and extends the hair growth phase.
16 citations
,
September 2014 in “International Journal of Biological Markers” Longer CAG and GGN repeats increase alopecia risk, but no significant link to post-finasteride syndrome found.
April 2008 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” The vitamin D receptor helps control hair growth and may protect against certain skin tumors.
7 citations
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October 2023 in “European Journal of Pharmacology” Cannabidivarin (CBDV) may help brain cell growth and survival through the TRPV1 receptor.
June 2023 in “medRxiv (Cold Spring Harbor Laboratory)” Nociplastic type pain, common in Chronic Overlapping Pain Conditions, is a complex, heritable trait linked to 24 unique genetic factors and 127 genes, with potential shared mechanisms in cognitive, personality, and metabolic traits.