119 citations
,
November 2014 in “Trends in Cell Biology” Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.
6 citations
,
January 2022 in “BMC Medical Genomics” Different gene mutations cause different types of ichthyosis, with some new mutations found.
26 citations
,
August 2014 in “Genetic Testing and Molecular Biomarkers” High levels of TNF-α may contribute to obesity and insulin resistance in PCOS, but not due to the C850T genetic variation.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
26 citations
,
September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
70 citations
,
April 2016 in “Experimental Dermatology” A patient with alopecia areata regrew hair after taking tofacitinib and showed changes in certain blood and skin markers.
A KRT32 gene variant causes loose anagen hair syndrome.
1 citations
,
September 2024 in “Animals” Specific gene variants affect wool traits in Chinese Tan sheep.
July 2024 in “Journal of Investigative Dermatology” The Fas/FasL pathway may play a role in alopecia areata.
30 citations
,
June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
5 citations
,
February 2019 in “The New England Journal of Medicine” Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
14 citations
,
February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
4 citations
,
October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
January 2026 in “Preprints.org” Four new FGF5 gene variants cause long hair in dogs.
6 citations
,
April 2023 in “Current Issues in Molecular Biology” A specific gene variant may increase the risk of developing Alopecia Areata.
6 citations
,
May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
5 citations
,
June 2008 in “British Journal of Dermatology”
1 citations
,
August 2022 in “Journal of Dermatology and Dermatologic Surgery” A patient developed nerve problems as a side effect of a hair loss treatment called tofacitinib.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
January 2025 in “International Journal of Dermatology” Tofacitinib improved hair and nail conditions in a teen with alopecia areata.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
2 citations
,
January 2016 in “Dermatology online journal” A 46-year-old man was diagnosed with frontal fibrosing alopecia, a condition usually seen in postmenopausal women.
9 citations
,
October 2019 in “Dermatologic Therapy” Oral tofacitinib has a moderate success rate and is generally safe for treating hair loss in some patients.
64 citations
,
August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
4 citations
,
January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
8 citations
,
January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
March 2021 in “Medico-Legal Update” The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.