A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
May 2008 in “Hair transplant forum international” A genetic test can identify people at risk of male pattern baldness early, allowing for quicker treatment.
19 citations
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November 2010 in “PubMed” New genetic insights have improved understanding of hair loss, leading to a new test and treatments, but more research is needed on the test and laser comb effectiveness.
October 2014 in “Journal of Minimally Invasive Gynecology” Genetic testing for cancer risk can lead to early and life-saving treatments in people without symptoms.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
2 citations
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May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
15 citations
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April 2002 in “British Journal of Dermatology” Hairless gene not strongly linked to baldness.
19 citations
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August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
62 citations
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January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
8 citations
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April 2018 in “Journal of the European Academy of Dermatology and Venereology” Certain genetic variations can make people more likely to experience hair loss and low white blood cell count from azathioprine.
5 citations
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May 2014 in “Clinical and Experimental Dermatology” Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
2 citations
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July 2022 in “Journal of the Endocrine Society” Some women with PCOS have rare genetic variants linked to the condition.
2 citations
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July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
157 citations
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May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
42 citations
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January 2018 in “Expert review of precision medicine and drug development” Drug repositioning is becoming more targeted and efficient with new technologies, offering personalized treatment options and growing interest in the field.
17 citations
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June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
3 citations
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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.
7 citations
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May 2010 in “Journal of Cutaneous Pathology” A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
2 citations
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February 2018 in “InTech eBooks” PCOS is complex, affects many, and requires informed management and lifestyle changes.
July 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” The study developed a 3D model that closely imitates remaining ovarian cancer after treatment and identified a potential drug targeting resistant cancer cells.
Screening for iron levels in patients with hair loss may help find a genetic iron overload condition early.
September 2022 in “Translational Andrology and Urology” Finasteride may cause lasting sexual and mental health issues, and genetic screening could help prevent them.
16 citations
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September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
9 citations
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September 2014 in “Cancer Epidemiology, Biomarkers & Prevention” Certain genetic variants in the androgen receptor are linked to higher PSA levels, potentially affecting prostate cancer screening outcomes.
2 citations
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May 2019 in “Small ruminant research” Mutations in specific llama genes may affect fiber quality for textiles.
3 citations
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August 2024 in “Frontiers in Endocrinology” Thyroid issues can cause alopecia areata.
2 citations
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
February 2026 in “Clinical Cosmetic and Investigational Dermatology” Vitiligo is influenced by genetics and environment, and combining these factors can improve early detection and prevention.
September 2025 in “Genes” Certain gene variations in Jiangnan cashmere goats are linked to important traits like birth weight and fiber quality, useful for breeding.