19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
40 citations
,
February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
21 citations
,
November 2017 in “Livestock science” Nellore cattle have genetic variations linked to their adaptation to tropical environments.
6 citations
,
April 2023 in “Current Issues in Molecular Biology” A specific gene variant may increase the risk of developing Alopecia Areata.
July 2022 in “Research Square (Research Square)” Lower PPARγ levels and specific gene variations are linked to more severe Frontal Fibrosing Alopecia.
December 2010 in “Vestnik dermatologii i venerologii” Certain genes and X chromosome patterns may significantly contribute to the development of hair loss.
January 2024 in “Kafkas Universitesi Veteriner Fakultesi Dergisi” A specific genetic variation affects wool quality in sheep.
February 1989 in “PubMed” A genetic hair protein variant is more common in Japanese people and is inherited.
1 citations
,
May 2023 in “Frontiers in Pharmacology” Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
July 2022 in “The Egyptian Journal of Hospital Medicine” Targeting IL-15 may help treat Alopecia Areata.
1 citations
,
August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
15 citations
,
December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
79 citations
,
March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
42 citations
,
July 2013 in “Gene” IL-4 gene variation may increase the risk of alopecia areata in Turkish people.
1 citations
,
July 2020 in “The Egyptian Journal of Hospital Medicine” The MDR1 C3435T polymorphism does not significantly affect methotrexate response in rheumatoid arthritis patients.
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
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.
63 citations
,
December 2013 in “PLoS ONE” Finasteride may reduce prostate cancer spread by lowering certain enzyme levels.
9 citations
,
January 2014 in “Medical Hypotheses” Higher DHT in male baldness may protect against prostate cancer.
September 2024 in “Frontiers in Genetics” A specific genetic marker is linked to male pattern baldness in Han Chinese men.
7 citations
,
July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
40 citations
,
January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
37 citations
,
October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
54 citations
,
November 2001 in “Urology” The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
2 citations
,
January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
1 citations
,
October 2025 in “Micromachines” Portable point-of-care testing can improve quick and accurate genetic disorder detection.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
7 citations
,
January 2021 in “The journal of gene medicine” Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.
November 2023 in “Scientific reports” The research identified and described a gene important for hormone conversion in endangered catfish, which varies in activity during different reproductive stages and after hormone treatment.