8 citations
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December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
Deleting Smad4 and PTEN genes in mice causes rapid, invasive stomach cancer.
April 2026 in “Proceedings of the National Academy of Sciences” Tmem30b is essential for hearing by maintaining hair cell structure in the ear.
13 citations
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March 1999 in “Biochemical Journal” Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
March 2025 in “Laboratory Investigation” Mesothelioma of the tunica vaginalis testis is rare, often high-grade, and has a median survival of about 24 months.
December 2023 in “The journal of cell biology/The Journal of cell biology” The mTurq2-Col4a1 mouse model shows how the basement membrane develops in live mammals.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
166 citations
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November 2008 in “Expert Review of Endocrinology & Metabolism” Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
1 citations
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July 2020 in “The Egyptian Journal of Hospital Medicine” The MDR1 C3435T polymorphism does not significantly affect methotrexate response in rheumatoid arthritis patients.
April 2024 in “Human genomics” Identified genes linked to male-pattern baldness may help develop new treatments.
53 citations
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October 2003 in “Genetics” The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
3 citations
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March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing MCPIP1 from myeloid cells in mice leads to hair loss and prevents skin tumors but causes pigmented spots.
19 citations
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July 2015 in “Journal of inherited metabolic disease” Methionine restriction works better than betaine for treating CBS deficiency symptoms in mice.
6 citations
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January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
3 citations
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November 2019 in “Journal of the ASEAN Federation of Endocrine Societies” A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
12 citations
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September 2024 in “Frontiers in Immunology” Mitochondrial genes help predict breast cancer outcomes and spread.
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.
39 citations
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October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
January 2000 in “Cambio 16” Bcl-2 affects hair growth and pigmentation by controlling cell death.
101 citations
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October 2007 in “Journal of Biological Chemistry” Reduced matriptase activity causes skin and hair issues in both humans and mice.
21 citations
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January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
35 citations
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April 1998 in “PubMed” Activated erbB-2 in mice skin causes severe skin and hair abnormalities.
4 citations
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July 2012 in “Genesis” The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
86 citations
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November 2015 in “Journal of Gastroenterology” The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
58 citations
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February 2016 in “Scientific reports” Blocking BACE1 and BACE2 enzymes causes hair color loss in mice.
1 citations
,
April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
2 citations
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.