50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
3 citations
,
July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
9 citations
,
January 2017 in “Annals of Dermatology” The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.
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.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
February 2022 in “Research Square (Research Square)” High TSPEAR levels in colorectal cancer predict worse outcomes.
NCBP3, SDHA, and PTPRA are the best genes for normalizing goat skin experiments.
30 citations
,
February 2021 in “Journal of Medical Virology” TMPRSS2 affects COVID-19 severity and treatment options.
3 citations
,
January 2018 in “Postępy Dermatologii i Alergologii” Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
47 citations
,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
1 citations
,
July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
November 2022 in “Journal of Investigative Dermatology” Scientists found a new type of skin cell that could help with skin repair and these cells work better with a certain protein.
40 citations
,
December 2012 in “PLoS ONE” Removing Ctip2 in skin cells causes skin inflammation similar to atopic dermatitis.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
1 citations
,
January 2025 in “medRxiv” Trichotillomania may have a genetic link to psychiatric disorders.
133 citations
,
January 2009 in “Nature” Lgr5 and the vitamin D receptor are key in controlling skin inflammation and tumor risk in mice.
46 citations
,
November 2007 in “Gene Expression Patterns” Trps1 plays a key role in hair follicle development and cycling.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” HSD11b1 affects skin nerves and increases non-histaminergic itch.
34 citations
,
January 2004 in “Genomics” A cluster of 21 keratin-associated protein genes important for hair growth was found on human chromosome 21.
January 2022 in “Research Square (Research Square)” High TSPEAR levels in colorectal cancer predict worse outcomes.
10 citations
,
February 2008 in “Photochemistry and photobiology” Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
5 citations
,
August 2019 in “iScience” Deleting the Trf1 protein in mice is safe and may help prevent cancer without major side effects.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
11 citations
,
November 2015 in “Carcinogenesis” Deleting TNFα gene reduces skin cancer risk in certain mice.
104 citations
,
May 2003 in “Endocrinology” Lampreys have a functional vitamin D receptor that may help detoxify harmful substances.
2 citations
,
July 2019 in “PeerJ” Removing the VDR gene in skin cells reduces their growth and affects hair-related genes.
5 citations
,
July 1996 in “Journal of Cutaneous Medicine and Surgery” TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
15 citations
,
December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.