February 2013 in “Journal of Visualized Experiments” The document's conclusion cannot be provided because the document is not available for analysis.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
July 2016 in “Cancer research” Mutant cells in hair follicles are influenced by their location and interactions with surrounding cells.
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.
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.
28 citations
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December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
5 citations
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May 2018 in “Statistics in Medicine” Model improves accuracy in predicting hair loss effects.
July 2025 in “Genome biology” HT-scCAT-seq helps understand gene regulation in embryonic skin development.
June 2026 in “Zenodo (CERN European Organization for Nuclear Research)” The system aims to extend human lifespan to 130-150 years by improving cellular health and reducing stress.
June 2026 in “Zenodo (CERN European Organization for Nuclear Research)” The system aims to extend human lifespan to 130-150 years by improving cellular health and reducing stress.
17 citations
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October 2005 in “Journal of Biological Chemistry” Early involution in Hirosaki hairless rats' mammary glands is linked to a unique modification of STAT5A.
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.
2 citations
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October 2024 in “Phenomics” 179 citations
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July 2005 in “Human Reproduction Update” PCOS is influenced by both genes and environment, but its exact genetic cause is still unclear.
May 2018 in “The journal of immunology/The Journal of immunology” Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
10 citations
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March 2016 in “The Journal of Obstetrics and Gynecology of India” The article suggests renaming Polycystic Ovarian Syndrome (PCOS) to "Hyperandrogenic Persistent Ovulatory Dysfunction Syndrome" (HA-PODS) for accuracy and consistency, but no final decision was made.
2 citations
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January 2002 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
6 citations
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August 2020 in “JCRPE” A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
Deleting Smad4 and PTEN genes in mice causes rapid, invasive forestomach cancer.
2 citations
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August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
30 citations
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June 1993 in “The Journal of Cell Biology” The oncoprotein causes abnormal hair growth without increasing skin cancer risk.
January 2002 in “Agritrop (Cirad)” The hr gene is linked to hair loss in Valle del Belice sheep.
38 citations
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May 1971 in “Clinical genetics” A specific metabolite, not a receptor protein, triggers the production of certain kidney enzymes, but this process is disrupted in mice with a mutation causing testicular feminization.
27 citations
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January 2000 in “Developmental Dynamics” Mutations in the Whn gene affect hair keratin gene expression differently.
4 citations
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February 2023 in “Stem Cell Research & Therapy” Mouse skin cells can become sperm-like cells in the lab.
6 citations
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March 2016 in “PLoS ONE” The patient's hair was thinner and had fewer lipids due to a genetic mutation.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
86 citations
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June 1998 in “Journal of Investigative Dermatology” The hairless gene mutation causes baldness by disrupting hair follicle structure.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.