5 citations
,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
1 citations
,
May 2024 in “Communications Biology” Dab2 protein is crucial for hair follicle stem cell renewal and preventing early aging.
53 citations
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October 2014 in “Free radical biology & medicine” Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
1 citations
,
April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
17 citations
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September 2013 in “The International Journal of Neuropsychopharmacology” 7 citations
,
May 2022 in “Cancers” UC.145 may be a new biomarker for predicting gastric cancer.
117 citations
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August 1999 in “Nature Genetics” September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
14 citations
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February 2017 in “Scientific Reports” Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.
FGF5 spliceosomes inhibit rabbit hair growth by affecting gene expression.
305 citations
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March 2008 in “AJP Endocrinology and Metabolism” SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
73 citations
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June 2006 in “Animal genetics” The FGF5 gene determines hair length in dogs.
February 2023 in “Journal of Plant Physiology” 37 citations
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January 1993 in “Journal of Investigative Dermatology”
62 citations
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January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
25 citations
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May 2004 in “Prenatal Diagnosis” Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
58 citations
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February 2013 in “Journal of Biological Chemistry” LGR5 mainly stays inside cells, moving to the trans-Golgi network, and this process is important for its role in cell signaling.
98 citations
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June 2008 in “Human mutation” A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
8 citations
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January 2012 in “JIMD reports” A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
7 citations
,
January 2015 in “Dermatology” Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.
September 2025 in “Science Advances” PADI4 enzyme slows down cell growth in developing hair follicles.
October 2007 in “European Neuropsychopharmacology” Smad4 is crucial for muscle repair, especially in aging, by promoting cell growth over differentiation.
3 citations
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August 2021 in “Research Square (Research Square)” The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
2 citations
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April 2019 in “Journal of Investigative Dermatology” Gasdermin A3 causes hair follicle stem cells to activate too early, leading to hair loss.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
23 citations
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March 2019 in “Gene” Editing the FGF5 gene in sheep increases wool length, confirming its role in hair growth.