July 2022 in “Journal of Investigative Dermatology” TRPS1 loss in balding scalp areas contributes to hair loss in androgenic alopecia.
December 2023 in “ANNALS OF ABBASI SHAHEED HOSPITAL AND KARACHI MEDICAL & DENTAL COLLEGE” Spexin levels are lower in PCOS patients and linked to metabolic and hormonal issues.
77 citations
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September 2017 in “Journal of Investigative Dermatology” TRPV3 in skin cells causes inflammation and cell death.
10 citations
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April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
April 2012 in “Development” Rac1 is crucial for normal hair structure and pigmentation.
61 citations
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June 2019 in “BMC Genomics” lncRNAs significantly influence koi carp skin color.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
September 2024 in “Journal of the American Academy of Dermatology” Oxytocin receptors are found in skin cells near touch and pain neurons.
1 citations
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December 2019 in “Frontiers in endocrinology” Higher androgen levels during puberty are linked to shorter adult height in boys with Silver-Russell syndrome.
75 citations
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January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
April 2017 in “Journal of Investigative Dermatology” Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
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.
2 citations
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August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
227 citations
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February 1989 in “The Journal of Comparative Neurology” CGRP-IR axons may help maintain and renew tissues.
6 citations
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February 2013 in “Medical Oncology” Certain genetic variants increase the risk of resistance to hormone therapy in prostate cancer patients.
January 1995 in “Seoul National University Open Repository (Seoul National University)” SSO helps in skin protection and keratinization.
22 citations
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September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
January 2025 in “Cell Communication and Signaling” CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
123 citations
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November 2012 in “Stem cells” MicroRNA-302 helps improve the conversion of body cells into stem cells by blocking NR2F2.
2 citations
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February 2023 in “Transgenic Research” The E2 protein affects gene activity in hair follicles of mice.
April 2019 in “Journal of Investigative Dermatology” Researchers created a new mouse model for studying scleroderma.
11 citations
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August 2009 in “Expert Opinion on Drug Discovery” We need better ways to test and understand SARMs to make safer and more effective treatments.
April 2023 in “Journal of Investigative Dermatology” Sunlight simulation causes skin inflammation, with different skin types reacting at different levels of exposure.
29 citations
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October 2004 in “Differentiation” Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.
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.
December 2024 in “Regenerative Therapy” Inhibiting SFRP1 may help treat hair loss.
5 citations
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September 2011 in “Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease” Hairless protein helps control hair growth by regulating vitamin D receptor activity.
50 citations
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September 2023 in “Biomarker Research” S100A6 is important for cell functions and can help diagnose and treat diseases.
February 2014 in “Revista Argentina de Cardiología” Androgens may increase arrhythmias in Brugada Syndrome, while Finasteride could reduce them.