20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
3 citations
,
September 2019 in “PLOS ONE” Genetic variations affect dutasteride treatment response for male pattern hair loss.
100 citations
,
November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
130 citations
,
January 2000 in “Nature biotechnology”
103 citations
,
March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
25 citations
,
January 2000 in “Hormone Research in Paediatrics” Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
9 citations
,
July 2011 in “Scientific Reports” Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
September 2009 in “Hair transplant forum international” Genetic testing can help understand male pattern baldness.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
4 citations
,
January 2021 in “Genetics and Molecular Biology” COVID-19 treatments and vaccines face challenges due to genetic differences in people and the virus.
30 citations
,
November 2019 in “Genetics selection evolution” Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
The KRT84 gene is linked to better wool quality in Gansu Alpine Fine-wool sheep.
4 citations
,
May 2024 in “Genes” KRT81 gene variations in sheep affect wool weight but not fiber length or thickness.
37 citations
,
August 2020 in “BMC Genomics” Hair greying is mainly influenced by age, with genetics playing a smaller role.
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.
29 citations
,
January 2010 in “Methods in Enzymology” The document concludes that careful design of genetic fate mapping experiments is crucial for accurate cell lineage tracing in mice.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
January 2025 in “Ginekologia Polska” VDR gene variations may affect carbohydrate metabolism in young women with hyperandrogenism.
14 citations
,
July 2001 in “American Journal of Human Genetics” Haplogroup X found in Altaian population supports Amerindian origin.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Differences in cashmere quality between goat breeds are linked to specific genes and pathways.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
153 citations
,
June 2015 in “GenomeBiology.com” The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
January 1990 in “Advances in forensic haemogenetics” Human hair protein patterns are inherited genetically.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
May 2005 in “Comparative and Functional Genomics”
186 citations
,
July 1998 in “Journal of Cutaneous Medicine and Surgery” Shorter CAG repeats may cause hair and skin issues, while longer ones may link to acne.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
44 citations
,
May 1997 in “Journal of Biological Chemistry” The human keratin 6a gene's specific sequences trigger expression in skin layers after injury.
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
14 citations
,
September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.