August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
30 citations
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July 2019 in “Endocrinology” Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.
2 citations
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January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
39 citations
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April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
January 2026 in “JCEM Case Reports” Genetics may play a significant role in gender dysphoria.
April 2017 in “Journal of Investigative Dermatology” Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
3 citations
,
April 2015 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Certain genetic markers on the Y-chromosome may influence prostate cancer risk in Iraqi males.
February 2026 in “Pediatric Dermatology” 5 citations
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February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
54 citations
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April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
18 citations
,
August 2019 in “Drug Development and Industrial Pharmacy” Quercetin-loaded nanoparticles can penetrate skin, minimize hair loss, and promote hair regrowth, showing slightly better results than a marketed product.
15 citations
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November 2017 in “Drug Development and Industrial Pharmacy” Improved tablets lead to faster, better drug absorption for hair loss treatment.
May 2023 in “GSC biological and pharmaceutical sciences” Forensic DNA phenotyping is becoming useful for predicting physical traits in criminal investigations but is limited by ethical concerns and incomplete genetic understanding.
November 2023 in “Вопросы современной педиатрии” Genetic testing can diagnose hair loss linked to DSG4 gene variants.
383 citations
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February 2011 in “Nature Reviews Genetics” DNA profiling in forensics has improved, but predicting physical traits and ancestry from DNA has limitations and requires ethical consideration.
August 2024 in “Clinical & experimental pathology” Forensic DNA phenotyping can now predict more physical traits and ancestry from DNA, but further improvements are needed.
13 citations
,
February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
6 citations
,
March 2007 in “BioTechniques” PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
September 2022 in “Annals of medicine and surgery” Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
18 citations
,
October 2005 in “International Journal of Pharmaceutics” Adding a small amount of TPGS to minoxidil can help hair growth, but too much TPGS reduces this effect and increases minoxidil in the blood.
30 citations
,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.