April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” p120-catenin helps control skin inflammation by regulating cadherin levels.
91 citations
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July 2004 in “Journal of Biological Chemistry” Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
January 2012 in “Faculty of Health; Institute of Health and Biomedical Innovation” Early-onset hair loss is linked to Parkinson's disease and decreased fertility.
36 citations
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January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
301 citations
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May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
75 citations
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September 2007 in “Journal of Heredity” FGF5 gene mutations cause long hair in domestic cats.
April 2012 in “Development” Rac1 is crucial for normal hair structure and pigmentation.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
124 citations
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September 1992 in “Endocrinology” The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
59 citations
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May 2017 in “Scientific reports” ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.
April 2018 in “Journal of Investigative Dermatology” The study found that p63 needs signals from morphogens to help skin cells differentiate properly.
April 2016 in “Journal of Investigative Dermatology” Lymphoid-specific helicase (Lsh) is crucial for skin growth, change, and healing after injury.
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
37 citations
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April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
9 citations
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July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
8 citations
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January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
2 citations
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March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
June 2025 in “International Journal of Nephrology and Renovascular Disease” PLA2R1 overexpression harms kidney cells by stopping their growth cycle.
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.
June 2023 in “Medicine and Pharmacy Reports” A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
227 citations
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January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
54 citations
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October 2007 in “The FASEB Journal” Phospholipase C-δ1 is crucial for normal hair development.
May 2024 in “JAMA Dermatology” Oral contraceptive use may increase the risk of frontal fibrosing alopecia in women with a specific CYP1B1 gene variant.
33 citations
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May 2017 in “Journal of Clinical Oncology” ETC-159 was safe up to 30 mg, but no tumor shrinkage was seen.
12 citations
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August 2019 in “BMC Medical Genetics” Certain MC4R gene variants are linked to higher BMI in obese women with PCOS but do not cause PCOS.
11 citations
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June 2012 in “Acta histochemica” Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
1 citations
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January 2020 in “Recent Research in Genetics and Genomics/Recent Research in Genetics and Genomics ” High doses of Lepidium sativum seed extract are toxic and should be used with caution.
13 citations
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July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
1 citations
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December 2015 in “Balkan Journal of Medical Genetics” Genetic screening can help diagnose and manage infertility in Slovenian couples.