7 citations,
December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
2 citations,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
2 citations,
July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
9 citations,
July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
3 citations,
August 2021 in “Clinical Case Reports” Genetic testing is crucial before giving azathioprine to avoid severe side effects.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
May 2024 in “Frontiers in medicine” A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
1 citations,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
3 citations,
May 2019 in “BMJ case reports” A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
1 citations,
July 2022 in “Movement disorders clinical practice” A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
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.
10 citations,
November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
1 citations,
May 2023 in “Frontiers in Pharmacology” Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
40 citations,
January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
19 citations,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
8 citations,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
5 citations,
February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
17 citations,
June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
3 citations,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
10 citations,
November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
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.
4 citations,
December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
34 citations,
October 2017 in “Archivos Argentinos De Pediatria” Alopecia Areata is a complex, unpredictable autoimmune hair loss condition with limited treatment options and a significant psychological impact.
January 2017 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Mice with a changed Hr gene lose and regrow hair due to changes in the gene's activity.
8 citations,
June 2019 in “Orphanet journal of rare diseases” Corticosteroids are the most effective treatment for Satoyoshi syndrome.
5 citations,
February 2019 in “The New England Journal of Medicine” Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.
November 2023 in “Frontiers in pharmacology” Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.