78 citations
,
November 2005 in “Endocrinology” Hairless protein can block vitamin D activation in skin cells.
78 citations
,
August 1996 in “The Journal of Clinical Endocrinology & Metabolism” The same gene mutation can cause different symptoms in family members.
5 citations
,
May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
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.
2 citations
,
February 2023 in “Transgenic Research” The E2 protein affects gene activity in hair follicles of mice.
27 citations
,
June 2015 in “Journal of Investigative Dermatology” TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” HSD11b1 affects skin nerves and increases non-histaminergic itch.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
1 citations
,
October 2024 in “Canine Medicine and Genetics” The MLPH gene is not linked to seasonal hair loss in Rhodesian Ridgeback dogs.
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
1 citations
,
November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
1 citations
,
April 2015 in “InTech eBooks” RAGE is a potential target for melanoma treatment, but its effectiveness is uncertain due to variable expression levels.
2 citations
,
October 2023 in “Cancer Reports” Mitochondrial features can predict colorectal cancer outcomes and improve immunotherapy.
Hedgehog signaling can create new hair follicles but may also cause tumors.
April 2018 in “Journal of Investigative Dermatology” 1 citations
,
November 2024 in “Cureus” Recognizing RSCC is crucial due to its aggressive nature and high risk of poor outcomes.
15 citations
,
August 2013 in “Gene” The MTHFR C677T mutation may increase the risk of alopecia areata in the Turkish population.
1 citations
,
August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
39 citations
,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
6 citations
,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene network led by RSL4 is crucial for early root hair growth in response to cold in Arabidopsis thaliana.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
April 2015 in “Andrology” HNG may help prevent the negative effects of chemotherapy on sperm production and white blood cell counts.
Lhx2 helps retinal cells respond to signals for eye development.
March 2009 in “Prenatal Diagnosis” Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
34 citations
,
June 1992 in “Journal of Cutaneous Pathology” Harlequin ichthyosis involves abnormal skin cell structures and giant mitochondria, affecting skin and hair.
3 citations
,
July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
124 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
13 citations
,
June 2020 in “International Journal of Molecular Sciences” HNG helps hair grow by keeping hair in the growth phase longer.