65 citations,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
50 citations,
February 2013 in “BMC evolutionary biology” Cetaceans lost hair due to changes in the Hr and FGF5 genes.
20 citations,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
13 citations,
July 2012 in “Pigment Cell & Melanoma Research” A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
11 citations,
July 2016 in “Current Opinion in Cell Biology” New techniques have enhanced our understanding of how stem cells function and the role of mutations in aging tissues, which may influence future cancer therapies.
5 citations,
June 2023 in “BMC genomics” A specific gene mutation causes long hair in Angora rabbits.
1 citations,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
260 citations,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
107 citations,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
95 citations,
February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
4 citations,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
144 citations,
March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
86 citations,
October 2005 in “Experimental Dermatology” The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.
9 citations,
November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
178 citations,
May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
56 citations,
April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
Researchers made a mouse model with curly hair and hair loss by editing a gene.
13 citations,
November 2013 in “Journal of Endocrinology/Journal of endocrinology” Vitamin D receptor helps control hair growth genes in skin cells.
6 citations,
July 2017 in “Biochemical and Biophysical Research Communications” The Hairless gene is crucial for hair cell development, affecting whether skin cells become hair or skin and oil gland cells.
188 citations,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
27 citations,
April 2019 in “Journal of The American Academy of Dermatology” Where melanoma is on the body affects survival chances; melanomas on the back of the head are worse, while those on thighs and arms are less severe, and more sun exposure might improve survival.
9 citations,
March 2015 in “International reviews of immunology” Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
3 citations,
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.
3 citations,
October 2011 in “JAT. Journal of applied toxicology/Journal of applied toxicology” Doxazosin mesylate and saw palmetto cause genetic changes in fruit flies.
2 citations,
November 2011 in “InTech eBooks” Most adrenal cortex tumors are benign and non-secreting, but proper diagnosis and treatment are important due to the rare possibility of cancer.
1 citations,
October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
1 citations,
May 2001 in “Pharmacology & Toxicology” Cyproterone acetate may cause liver cancer at high doses, but is considered safe at recommended doses for approved uses.