16 citations
,
January 2005 in “The International Journal of Developmental Biology” Hex gene plays a crucial role in starting feather development in chick embryos.
June 2026 in “British Journal of Dermatology” A rare genetic mutation in the EGFR gene caused severe skin issues and other health problems in a Slovakian girl, who is now 4 years old and receiving care.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
76 citations
,
January 1998 in “Mammalian Genome” The AMHR2-482A>G gene change is linked to higher PCOS risk.
March 1998 in “Journal of Dermatological Science” Keratin-associated proteins may have roles in various mouse tissues, not just hair.
9 citations
,
July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
24 citations
,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
2 citations
,
October 2024 in “Phenomics”
24 citations
,
August 2017 in “Prostaglandins & Other Lipid Mediators” CRTH2 antagonists might be useful for treating many conditions because they play a role in immune and inflammation responses.
40 citations
,
December 2012 in “PLoS ONE” Removing Ctip2 in skin cells causes skin inflammation similar to atopic dermatitis.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
9 citations
,
June 2014 in “Molecular biology reports” KAP9.2 and Hoxc13 genes are important for cashmere growth and vary in activity during different stages.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
15 citations
,
May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
4 citations
,
December 2016 in “Blood” A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
25 citations
,
June 2014 in “Journal of Endocrinology/Journal of endocrinology” Human sebaceous glands contain enzymes that affect androgen production and may influence sebum production and acne.
4 citations
,
February 2021 in “Plant journal” OsUEV1B protein is essential for controlling phosphate levels in rice.
January 2004 in “Linchuang pifuke zazhi” Black hairs have more pigment-related genes, while gray hairs have more keratin-related genes.
September 2019 in “Journal of Investigative Dermatology” PCE-DP brightens skin and promotes hair growth by enhancing cell growth and reducing melanin uptake.
97 citations
,
March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
11 citations
,
January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
26 citations
,
September 2005 in “Pharmacology Biochemistry and Behavior” 5alpha-reductase 2 is crucial for proper male brain development and sexual differentiation.
1 citations
,
July 2023 in “Nature communications” MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
35 citations
,
May 2015 in “Thrombosis Research” Prostaglandin E2 affects human platelet activity in complex ways that could lead to personalized heart disease treatments.
13 citations
,
November 2018 in “Animal Genetics” A new gene variant causes curly coats in some dog breeds.
65 citations
,
February 1992 in “Development” Type II keratin genes are crucial for hair follicle differentiation and have a conserved structure and expression pattern.
UBC13 and UBC22 enzymes are important for plant growth and development in Arabidopsis thaliana.