September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
September 2018 in “Fertility and Sterility” The HSD3B1 variant increases hair loss risk in overweight women with PCOS.
40 citations
,
May 2005 in “Journal of Cell Science” Truncated LTBP-1 disrupts TGF-β signaling, affecting hair growth.
234 citations
,
November 2009 in “American journal of human genetics” Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
12 citations
,
August 2013 in “Journal of Dermatological Science” The MAGE3 hypothesis for alopecia areata did not lead to a significant breakthrough.
November 2023 in “Вопросы современной педиатрии” Genetic testing can diagnose hair loss linked to DSG4 gene variants.
ARHGEF3 is essential for proper hair follicle development.
43 citations
,
December 2013 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
18 citations
,
November 2016 in “Transgenic research” Overexpressing Tβ4 in cashmere goats improves hair fiber traits and increases cashmere yield.
48 citations
,
June 2000 in “Japanese Journal of Cancer Research” Dimethylarsinic acid speeds up skin tumor growth in certain mice.
July 2002 in “Science s STKE” Modified β-catenin causes different effects in hair and skin cells, leading to cysts or tumors.
7 citations
,
July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
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.
2 citations
,
October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
January 2016 in “Memorial University Research Repository (Memorial University)” Hereditary hyperplastic gingivitis in silver foxes may be linked to errors in the MAPK signaling pathway, influenced by androgens.
8 citations
,
March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
21 citations
,
February 2006 in “Clinical Cancer Research” Mitf plays a key role in melanoma progression and is linked to disease stage.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
July 2022 in “Journal of Investigative Dermatology” March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
42 citations
,
April 2009 in “Human Genetics” A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.
49 citations
,
November 2012 in “Journal of neurology, neurosurgery and psychiatry” Non-motor symptoms in myasthenia gravis are common and need early diagnosis for better management.
1 citations
,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
April 2007 in “Linchuang pifuke zazhi” TGF-β1 and 2 may play a role in hair loss in AGA.
227 citations
,
January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
25 citations
,
January 2017 in “Steroids” Allopregnanolone increases growth and changes gene activity in human brain cancer cells.
7 citations
,
December 2008 in “Journal of Dermatological Science” Progranulin overexpression leads to shorter, thinner hair and increased cell death in mouse hair follicles.
January 2026 in “PLoS Biology” ARHGEF3 is essential for proper hair follicle development in mice.
4 citations
,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.