June 2024 in “Annals of Medicine and Surgery” A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
5 citations
,
February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
Researchers created a new mouse model, G4, that mimics human PCOS symptoms and links the condition to a specific gene.
46 citations
,
August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
1 citations
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November 2024 in “Cutis” PLLA injections can cause hair loss and skin issues.
March 2009 in “Prenatal Diagnosis” Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
January 2005 in “Enlighten: Publications (The University of Glasgow)” Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.
28 citations
,
December 2018 in “Plant, cell & environment/Plant, cell and environment” A protein called PLC2 is important for the growth and development of plant roots influenced by auxin.
10 citations
,
October 2016 in “Monoclonal antibodies in immunodiagnosis and immunotherapy” Researchers created specific antibodies that detect a protein important in development and various conditions, and can be used for research and diagnosis.
April 2012 in “The FASEB Journal” LPA 4 helps control blood and lymph vessel development in zebrafish.
February 2024 in “Zagazig University Medical Journal” TCF7L2 gene polymorphism is linked to alopecia areata, but it doesn't affect the success of PRP or conventional treatments.
117 citations
,
August 1999 in “Nature Genetics” April 2012 in “Journal of evolution of medical and dental sciences” No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
117 citations
,
May 2017 in “Human Reproduction Update” The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
30 citations
,
November 2013 in “PLOS ONE” Androgen receptor signaling causes early aging of cells important for hair growth by damaging their DNA.
October 2025 in “Nature Reviews Disease Primers” October 2025 in “Nature Reviews Disease Primers” January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
May 2022 in “Benha Journal of Applied Sciences” Higher levels of PD-L1 are linked to more severe hair loss in people with Alopecia Areata.
September 2025 in “Cosmetics” Genetic profiling can improve androgenetic alopecia treatment by predicting drug response and minimizing side effects.
5 citations
,
January 2018 in “Acta Dermatovenerologica Alpina Pannonica et Adriatica” Congenital atrichia with papular lesions causes permanent hair loss in children.
109 citations
,
September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
6 citations
,
March 2024 in “Journal of Clinical Laboratory Analysis” Certain genetic variations in IGF2BP2 and IGFBP3 are linked to a higher risk of PCOS.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
107 citations
,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
45 citations
,
January 2012 in “The Journal of Steroid Biochemistry and Molecular Biology” Too much AKR1C3 enzyme causes resistance to finasteride by increasing testosterone.
4 citations
,
December 2020 in “Mammalian genome” Harlequin mutant mice have hair loss due to low AIF protein levels and retroviral element activity.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
31 citations
,
October 2010 in “Progress in lipid research” LPA3 is crucial for embryo implantation and links LPA to prostaglandin signaling.
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.