11 citations
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January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
26 citations
,
September 2020 in “Journal of the European Academy of Dermatology and Venereology” A certain genetic variant in the androgen receptor may predict the severity of COVID-19 in men.
1 citations
,
January 2019 in “Open Journal of Internal Medicine” Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
March 2026 in “Sexual Development” Tortoiseshell tomcats with XX/XY chimerism can be fertile.
29 citations
,
May 2018 in “Clinical Endocrinology” Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
6 citations
,
October 2010 in “Gynecological Endocrinology” Relatives of women with PCOS symptoms are more likely to have similar health issues.
1 citations
,
July 2024 in “JCEM Case Reports” A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
1 citations
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January 2022 in “IntechOpen eBooks” Different PCOS types respond uniquely to infertility treatments, with some having lower pregnancy rates and higher risks of complications.
January 2025 in “Nutrients” Genetic factors and diet significantly increase the risk of male pattern baldness.
1 citations
,
December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
44 citations
,
May 2012 in “Endocrinology” High levels of androgens during early development may cause PCOS-like symptoms.
June 2015 in “Annals of the Rheumatic Diseases” Managing multiple autoimmune diseases in one patient is very challenging.
January 2022 in “Mammalian Genome” The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
May 2026 in “International Journal of Drug Delivery Technology” Machine learning can accurately predict PCOS phenotypes using lifestyle and symptom data.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
13 citations
,
September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
OCT4B1 and SOX-2 levels are higher in Crohn's and ulcerative colitis patients, possibly aiding tissue repair.
1 citations
,
January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
MITF and WNT3A are key in Dun Mongolian horse pigmentation.
26 citations
,
June 2003 in “PubMed” Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
December 2023 in “International Journal of Dermatology” 1 citations
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June 2025 in “Pigment Cell & Melanoma Research” SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
February 2009 in “Journal of The American Academy of Dermatology” Certain immune system genes are linked to a higher risk of psoriasis and psoriatic arthritis, while others may offer protection.
September 2022 in “Research Square (Research Square)” 5% topical minoxidil improves hair density and quality in monilethrix patients.
9 citations
,
July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
29 citations
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June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
September 2024 in “Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi” XGBoost can effectively diagnose PCOS with 87% accuracy.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
17 citations
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October 2003 in “Brazilian Journal of Medical and Biological Research” The gene SDR5A1 is found in scalp hair of both hirsute and normal individuals, but it does not explain differences in hair growth.