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.
4 citations
,
January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
2 citations
,
June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
1 citations
,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
28 citations
,
August 2014 in “Journal of Assisted Reproduction and Genetics” The VEGF +405G allele may increase the risk of PCOS in South Indian women.
The study found that different genes are active in cashmere goats' hair growth stages, which can help improve cashmere production.
7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
35 citations
,
June 2011 in “British Journal of Dermatology” The DQB1*03 allele is linked to higher alopecia areata risk in Italians.
122 citations
,
January 2006 in “Molecular & Cellular Proteomics” Human hair contains many proteins, with some being highly abundant and modified.
24 citations
,
July 2017 in “Structure” FGF9 controls which receptors it binds to through a process where two FGF9 molecules join, and changes in FGF9 can lead to incorrect receptor activation.
July 1991 in “Endocrinology” The document contains an error.
3 citations
,
April 2015 in “Current problems in dermatology” A more sensitive assay was developed to detect enzyme activity converting arginine to citrulline in hair follicles.
March 2024 in “Dermatology and therapy (Internet)” Genetic factors could lead to personalized treatments for hair loss.
37 citations
,
April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
7 citations
,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
January 2012 in “Journal of Northwest A & F University” The Eda gene helps regulate the hair cycle in goats.
February 2025 in “Intisari Sains Medis” PDRN from salmon may slow skin aging by improving skin quality and reducing inflammation.
8 citations
,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
29 citations
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October 2017 in “Journal of proteomics” The research found specific proteins that affect fiber characteristics and hair growth in sheep and goats.
100 citations
,
November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
4 citations
,
August 2018 in “Journal of cellular biochemistry” Acid inside cells speeds up aging and turns on aging signs in mice.
The KRTAP36-1 gene affects wool quality in Chinese Tan lambs.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
47 citations
,
January 2017 in “RSC Advances” Keratin peptides can change hair shape gently without harsh chemicals.
49 citations
,
July 1994 in “British journal of dermatology/British journal of dermatology, Supplement” Some children with methylmalonic and propionic acidaemias have skin problems related to their condition and diet.
January 2024 in “Archives of Dermatological Research” Different types of male pattern baldness have unique inflammation-related protein patterns.
7 citations
,
May 2005 in “Experimental Dermatology” Two mouse mutations cause similar hair loss despite different skin changes.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
10 citations
,
February 2021 in “PLoS biology” Corin helps control salt and sweat release in sweat glands.