3 citations
,
April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
Polarized microscopy helps identify hair irregularities in genetic disorders.
4 citations
,
January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” A new staining method shows a special area in the hair's skin layer with lots of proteoglycans.
2 citations
,
January 1993 Trichohyalin is a versatile protein involved in hair and skin structure.
20 citations
,
August 2017 in “PLoS ONE” 61 functional keratin genes were identified in dogs and horses, leading to updated gene annotations.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
112 citations
,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
114 citations
,
May 2001 in “Development” Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.
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.
2 citations
,
April 2013 in “Expert Review of Endocrinology & Metabolism” Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
7 citations
,
September 2024 in “PLANT PHYSIOLOGY” RALF22 is essential for root hair growth in response to fungal emissions in Arabidopsis.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
January 2024 in “Wiadomości Lekarskie” Low-penetration genes might help personalize colorectal cancer prevention.
5 citations
,
March 2011 in “Journal of proteomics” Histone H4, released by cells exposed to colchicine, can cause hair loss by inhibiting cell growth and enzyme activity.
3 citations
,
March 2016 in “Experimental Dermatology” A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
9 citations
,
January 2023 in “International Journal of Biological Sciences” CTHRC1 is essential for healing and preventing heart rupture after a heart attack.
April 2017 in “Journal of Investigative Dermatology” The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
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.
January 2025 in “Dermatologic Therapy” Combining fractional CO2 laser with type III collagen improves acne scar treatment.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.
23 citations
,
July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
11 citations
,
July 2021 in “Physiologia Plantarum” SIPHL1 from tomato enhances plants' response to low phosphate levels.
12 citations
,
December 2013 in “Immunological Investigations” The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.
27 citations
,
July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology” 34 citations
,
September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
45 citations
,
March 1997 in “Journal of Investigative Dermatology”
2 citations
,
July 2021 in “Biochemical and Biophysical Research Communications” CTHRC1 helps hair grow back, and plantar dermis mixture boosts it.