54 citations
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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.
5 citations
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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.
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
July 2021 in “British Journal of Dermatology” The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
94 citations
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
Deleting Smad4 and PTEN genes in mice causes rapid, invasive stomach cancer.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
Inhibiting mTORC2 can reduce DNA repair and increase cancer cell death, suggesting potential for targeted brain cancer treatments.
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October 2008 in “Journal of Investigative Dermatology” Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
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January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
May 2010 in “OPAL (Open@LaTrobe) (La Trobe University)” Vaccines and targeting TrxR variants can help prevent cancer and reduce metastasis.
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March 2017 in “JAAD case reports” The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
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October 1996 in “Dermatologic clinics” Advances in genetics may lead to targeted treatments for hair disorders.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
July 2022 in “Journal of Investigative Dermatology” A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
January 2025 in “Ege Tıp Bilimleri Dergisi” Radiotherapy affects mitochondrial-related genes in metastatic breast cancer cells.
78 citations
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August 1996 in “The Journal of Clinical Endocrinology & Metabolism” The same gene mutation can cause different symptoms in family members.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
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August 2004 Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
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June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
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August 2024 in “Frontiers in Endocrinology” Thyroid issues can cause alopecia areata.
6 citations
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January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
7 citations
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March 2024 in “Non-coding RNA Research” DNA methylation of miR-365-1 causes hair follicle stem cell death by affecting DAP3.
April 2016 in “Journal of Investigative Dermatology” Mefloquine, an antimalarial drug, is effective in killing melanoma cells resistant to other treatments by causing lethal stress in the cells.
April 2015 in “Journal of Nutritional Therapeutics” Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.
July 2012 in “European journal of cancer” MPA increases cancer spread by boosting Eph A2 activity.
January 2025 in “Clinical Cosmetic and Investigational Dermatology” Genetic testing is crucial for diagnosing rare hair loss disorders.