April 2011 in “Vestnik dermatologii i venerologii” Certain gene variations and irregular X chromosome activity may contribute to hair loss in women who can have children.
April 2024 in “Anais Brasileiros de Dermatologia”
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
22 citations
,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
1 citations
,
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” GTL1 is needed to control root hair growth and prevent problems when there are too many nutrients.
28 citations
,
February 2010 in “Experimental Dermatology” The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
5 citations
,
November 2022 in “Genetics selection evolution” Low-coverage sequencing is a cost-effective way to find genetic factors affecting rabbit wool traits.
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.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
11 citations
,
January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
86 citations
,
November 2015 in “Journal of Gastroenterology” The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
A new genetic mutation was found causing hair and eye issues in a boy.
June 2023 in “medRxiv (Cold Spring Harbor Laboratory)” Nociplastic type pain, common in Chronic Overlapping Pain Conditions, is a complex, heritable trait linked to 24 unique genetic factors and 127 genes, with potential shared mechanisms in cognitive, personality, and metabolic traits.
7 citations
,
May 2022 in “Cancers” UC.145 may be a new biomarker for predicting gastric cancer.
29 citations
,
July 2015 in “Journal of Medical Genetics” A genetic variant in the KRT25 gene causes tightly curled hair.
Variant G of the KRTAP20-1 gene improves wool curliness in Chinese Tan sheep.
5 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
March 2026 in “Dermatopathology” Different types of skin gland tumors have unique genetic traits, which can guide personalized treatments.
7 citations
,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
1 citations
,
September 2017 C-scores can help predict gain-of-function and loss-of-function mutations.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
24 citations
,
November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
91 citations
,
May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
January 2023 in “Annals of Dermatology” Patients with a specific genetic variant have more severe alopecia areata and higher recurrence rates.
3 citations
,
April 2023 in “Veterinary sciences” Researchers found genes that may explain why some pigs grow winter hair, which could help breed cold-resistant pigs.
January 2024 in “International journal of molecular sciences” Hoxc13 gene affects wool length in Gansu alpine fine-wool sheep.
3 citations
,
October 2024 in “Animals” An allele of the KRTAP13-2 gene may improve wool quality in sheep.
47 citations
,
April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.