62 citations
,
December 2007 in “Journal of biological chemistry/The Journal of biological chemistry” A specific chemical change in the S100A3 protein leads to the formation of a four-part structure important for hair formation.
Defective nuclear transport may cause gene expression changes in Progeria.
60 citations
,
March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
78 citations
,
May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
20 citations
,
August 2003 in “Clinical and Experimental Dermatology” A new genetic mutation in the hairless gene causes a rare hair loss disorder.
10 citations
,
May 1974 in “American journal of diseases of children” The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
2 citations
,
April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
10 citations
,
August 2013 in “Experimental Dermatology” Hairless protein and putrescine regulate each other, affecting hair growth and skin balance.
76 citations
,
December 2011 in “Journal of Cell Science” Different keratin types have unique amino acid patterns that are evolutionarily conserved.
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.
40 citations
,
June 2013 in “Scientific Reports” A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
3 citations
,
January 2016 in “Case reports in dermatological medicine” An 80-year-old man grew extra hair on his forearms after starting Alzheimer's medication rivastigmine.
3 citations
,
January 2018 in “Postępy Dermatologii i Alergologii” Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
42 citations
,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
November 2020 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” Certain genetic variants in PRLR and PCCA genes may lead to shorter hair in cattle, which could help with heat tolerance.
46 citations
,
November 1963 in “Journal of Histochemistry & Cytochemistry” Arginine converts to citrulline in hair follicles as proteins harden.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
135 citations
,
October 1997 in “Journal of biological chemistry/The Journal of biological chemistry” Trichohyalin is modified by enzymes to form strong structures in hair cells.
June 2025 in “Neurology India” Anti-SRP myopathy can be linked to systemic lupus erythematosus and may improve with specific treatment.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
37 citations
,
August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
175 citations
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August 1997 in “Nature Genetics” May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
2 citations
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June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.