April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
36 citations
,
July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
15 citations
,
August 2010 in “Fertility and sterility” Metformin works better for adolescent girls with PCOS who have certain genetic variations.
28 citations
,
October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
6 citations
,
November 2019 in “The application of clinical genetics” The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.
27 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
100 citations
,
November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
53 citations
,
October 2003 in “Genetics” The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
January 2026 in “Preprints.org” Four new FGF5 gene variants cause long hair in dogs.
44 citations
,
January 2008 in “Fertility and Sterility” Longer CAG repeat lengths in the androgen receptor gene are linked to higher testosterone levels in women with PCOS.
Genetic factors in PCOS are complex, with potential influences from the MC4R gene.
6 citations
,
April 2018 in “Transplantation proceedings” A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.
20 citations
,
January 2017 in “Genetica” The methylation of the HOXC8 gene's exon 1 affects cashmere fiber length in goats.
May 2024 in “Frontiers in medicine” A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
September 2023 in “Journal of International Medical Research” Metformin increases FSH levels in PCOS, and KISS1 gene variations may influence PCOS development.
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.
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.
26 citations
,
May 2024 in “Molecular Neurodegeneration” H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
56 citations
,
July 2004 in “Mechanisms of Development” Pax9 is crucial for proper tongue surface development and preventing skin-like changes.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
17 citations
,
August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
1 citations
,
November 2023 in “Anais Brasileiros de Dermatologia” Certain gene variations and low adiponectin levels may increase the risk of hair loss in Egyptians.
12 citations
,
July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
3 citations
,
January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
32 citations
,
January 2000 in “Human Heredity” Monilethrix severity varies and may be influenced by other genetic or environmental factors.
30 citations
,
January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.