January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
5 citations
,
May 2023 in “European Journal of Human Genetics” NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
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.
8 citations
,
January 2012 in “JIMD reports” A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
2 citations
,
July 2022 in “Journal of the Endocrine Society” Some women with PCOS have rare genetic variants linked to the condition.
November 2020 in “UNC Libraries” Seven new genetic risk areas for prostate cancer were found.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
39 citations
,
January 2020 in “Scientific Reports” Four circRNAs were found to be significantly different in cashmere goat skin, affecting cashmere fineness.
2 citations
,
January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
39 citations
,
September 2012 in “Human Reproduction” Certain genetic variations in the SHBG gene are linked to an increased or decreased risk of PCOS in Mediterranean women.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
The KRT84 gene is linked to better wool quality in Gansu Alpine Fine-wool sheep.
8 citations
,
April 2017 in “Journal of The Royal Society Interface” Giant axonal neuropathy changes the structure of keratin in human hair.
21 citations
,
November 2017 in “Livestock science” Nellore cattle have genetic variations linked to their adaptation to tropical environments.
11 citations
,
June 2012 in “Acta histochemica” Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
The microenvironment affects the behavior and survival of melanocytes with the GNAQ oncogene in melanoma.
8 citations
,
June 1981 in “Clinica Chimica Acta”
2 citations
,
June 2021 in “Research Square (Research Square)” A new gene mutation causes long hair in some Maine Coon cats.
2 citations
,
April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
1 citations
,
November 2023 in “Anais Brasileiros de Dermatologia” Certain gene variations and low adiponectin levels may increase the risk of hair loss in Egyptians.
October 2024 in “Frontiers in Pharmacology” Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
24 citations
,
December 2013 in “Archives of Dermatological Research”
3 citations
,
April 2025 in “Nature Communications” GIANT improves brain imaging by using genetics to better map brain regions.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
39 citations
,
January 2020 in “Frontiers in Genetics” PDGFC gene may help select goats with desirable curly wool traits.