13 citations
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June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
37 citations
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January 2009 in “Sexual Development” Fadrozole and Finasteride change frog sex ratios and cause intersex animals with altered gene expressions.
Mohamed Kandil suggests renaming Polycystic Ovary Syndrome to "Polyfollicular Anovulatory Androgenic Syndrome" to better describe its symptoms, but concerns exist that it may not cover all related issues like obesity and depression.
The paper suggests that a decrease in estrogen receptor activity may cause sexual dysfunction syndromes and proposes hormonal treatments.
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.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
1 citations
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November 1995 in “Postgraduate medical journal” A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
4 citations
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July 2017 in “Journal of Medical Case Reports” The 2012 criteria are better for diagnosing atypical lupus cases.
Removing SIX1 in fat cells reduces skin fibrosis.
18 citations
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November 2018 in “Annals of the Academy of Medicine Singapore” Sulfasalazine can cause severe allergic reactions leading to long-term autoimmune issues like hair loss and skin discoloration.
September 2007 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.
April 2022 in “Microbiology and Immunology” A specific DNA pattern in Malassezia restricta may be linked to hair loss in men.
October 2024 in “Journal of the Endocrine Society” Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.
12 citations
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March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
1 citations
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January 2022 in “Springer eBooks” 1 citations
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July 2024 in “JCEM Case Reports” A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
May 2025 in “The Journal of Rheumatology” Purpura fulminans can signal underlying autoimmune disorders, not just infections.
4 citations
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January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
55 citations
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November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
6 citations
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April 2012 in “PubMed” Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
25 citations
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May 2016 in “Progress in Biophysics & Molecular Biology” R-spondins and their receptors help increase bone growth and may be used to treat bone loss diseases.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
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.
24 citations
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September 2005 in “Journal of Cellular Biochemistry” Retinoids increase steroid sulfatase activity in leukemia cells through RARα/RXR and involves certain pathways like phosphoinositide 3-kinase and ERK-MAP kinase.
June 2016 in “Annals of the Rheumatic Diseases” Early symptoms of SLE include fatigue, joint pain, and sensitivity to sunlight.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.