18 citations
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February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
September 2023 in “Environmental health perspectives. Supplements” Girls in Alcalá have higher hair calcium and strontium levels than boys, with lower overall levels than other regions.
4 citations
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January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
January 1969 in “Santes Creus: Boletín del Archivo Bibliográfico de Santes Creus” Planarians regenerate using conserved gene expression mechanisms, with runt-1 crucial for cell type specification.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
September 2022 in “Research Square (Research Square)” Increasing Rps14 helps grow more inner ear cells and repair hearing cells in baby mice.
September 2020 in “Acta Scientific Cancer Biology” Personalized treatment based on detailed tumor analysis successfully managed and reduced the patient's aggressive hair follicle cancer.
44 citations
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January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
20 citations
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December 2000 in “Fertility and Sterility” The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.
April 2018 in “Journal of Investigative Dermatology” Id2 gene helps keep hair follicle stem cells inactive.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
15 citations
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December 2017 in “Journal of Investigative Dermatology” No strong genetic link to other skin conditions was found, but some genetic factors may make people more likely to get seborrheic dermatitis.
33 citations
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February 2016 in “Journal of Experimental Botany” ROOT HAIR SPECIFIC 10 (RHS10) reduces the length of root hairs in Arabidopsis plants.
76 citations
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September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
April 2025 in “Molecular Biology Reports” DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
April 2023 in “Journal of Investigative Dermatology” Some patients who had a severe drug reaction developed long-term hair loss.
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.
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.
RNase L hinders hair follicle regeneration by altering immune signals.
April 2026 in “Communications Biology” The development of breeding tubercles in male zebrafish relies on a specific enzyme that processes hormones.
13 citations
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August 2000 in “Blood” Measuring minimal residual disease on day 15 helps identify high-risk leukemia patients.
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
12 citations
,
March 2013 in “Gynecological Endocrinology” The study found a significant link between the renin-angiotensin system and insulin resistance in women with polycystic ovary syndrome.
118 citations
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October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
2 citations
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August 2016 in “Journal of Investigative Dermatology” 28 citations
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March 1993 in “Journal of Cell Science” Keratins K4 and K13 form stable dimers in mature esophageal cells, aiding cell stability.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Different types of PPARγ are found in varying amounts in human skin and its parts, which could affect how skin treatments work.
129 citations
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January 2004 in “Journal of medicinal chemistry” Researchers developed new compounds that target the androgen receptor effectively with fewer side effects.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
April 2023 in “Journal of Investigative Dermatology” RNase L suppresses regeneration in mammals.