65 citations
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February 2018 in “The Plant Journal” PLDζ2 and NPC4 have different roles in lipid changes and root hair growth in Arabidopsis under low phosphate, with PLDζ2 reducing root hair growth and NPC4 promoting it.
March 2024 in “Poster presentations” A woman with lupus and Kikuchi-Fujimoto disease improved with treatment.
8 citations
,
March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
40 citations
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January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
2 citations
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April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
1 citations
,
January 2004 in “Elsevier eBooks” Polycystic Ovarian Syndrome (PCOS) is a common condition causing fertility issues and other symptoms, with unclear causes and treatments focused on improving insulin sensitivity.
7 citations
,
January 2015 in “Dermatology” Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.
6 citations
,
August 2020 in “JCRPE” A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
October 2023 in “International Journal of Science and Research (IJSR)” Early diagnosis of GLPLS is crucial to prevent complications, but scarring alopecia is irreversible.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
6 citations
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May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
2 citations
,
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
15 citations
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June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
12 citations
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May 2023 in “Molecules” Polygoni Cuspidati Rhizoma et Radix contains compounds that inhibit certain enzymes.
26 citations
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February 2003 in “The journal of investigative dermatology/Journal of investigative dermatology” An enzyme other than TNAP might be responsible for vitamin B-6 metabolism in the skin.
6 citations
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December 2021 in “International Journal of Endocrinology” The genetic variant studied does not affect PCOS symptoms in Kashmiri women.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
13 citations
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January 2020 in “Acta Dermato Venereologica” Ruxolitinib treatment led to unexpected hair regrowth in a patient with alopecia universalis.
119 citations
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
74 citations
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February 2018 in “Journal of the American Academy of Dermatology”
29 citations
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December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
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.
33 citations
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February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
2 citations
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September 1980 in “Experientia” Polyethylene alanine caused hair loss in young lab animals but not in adults, with hair regrowth occurring within 20 days.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
October 2023 in “IntechOpen eBooks” Genes and epigenetic changes are important in the development of Polycystic Ovary Syndrome.
138 citations
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August 2020 in “Frontiers in Endocrinology” PCOS affects health and quality of life, with effective treatments available and a need for more research on alternative therapies.
124 citations
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June 2002 in “Best Practice & Research Clinical Endocrinology & Metabolism” Polycystic Ovary Syndrome likely starts in childhood and may be genetic and influenced by early hormone exposure.