40 citations
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February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
9 citations
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July 2011 in “Scientific Reports” Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
5 citations
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February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
1 citations
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September 2023 in “Animals” A new goat gene affects cashmere fiber thickness; certain variations can make the fibers coarser.
January 2025 in “Nature Communications” CPK1 helps root hair growth in Arabidopsis by activating channels for calcium signaling.
6 citations
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September 2019 in “Skin pharmacology and physiology” RCS-01 therapy is safe and may improve skin structure by affecting gene expression.
19 citations
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December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
32 citations
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May 1999 in “Biochemical and Biophysical Research Communications” A new enzyme, BSSP, is found in high amounts in the hair follicles of nude mice.
15 citations
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September 2012 in “PTR. Phytotherapy research/Phytotherapy research” Ginsenosides Rb₁ and Rd may help prevent hair loss by promoting hair cell growth.
May 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” rPanglaoDB helps study rare cell types by merging RNA data, confirming fibrocytes' role in healing.
122 citations
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July 1994 in “Journal of Investigative Dermatology” 97 citations
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January 1999 in “International Journal of Dermatology” Pityriasis rubra pilaris is a rare skin disorder with reddish-orange patches and thickened skin, needing better treatment understanding.
16 citations
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February 2018 in “BMC Genomics” Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
November 2024 in “Journal of Investigative Dermatology” Understanding snoRNA regulation may help slow skin aging.
1 citations
,
January 2004 in “Adelaide Research & Scholarship (AR&S) (University of Adelaide)” SPARC likely aids in tissue remodeling during the hair cycle, not in starting new hair growth phases.
4 citations
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October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
11 citations
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February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
9 citations
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July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
37 citations
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December 2020 in “PLANT PHYSIOLOGY” A mutant FERONIA gene affects root hair growth at high temperatures.
Wnt10b promotes hair growth, while SFRP2 inhibits it in Wanxi Angora rabbits.
52 citations
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April 2012 in “Journal of Investigative Dermatology” KRTAP2 genes are crucial for hair structure and may impact hair disorders and treatments.
36 citations
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January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
April 2023 in “Journal of Investigative Dermatology” Targeting mTOR in myeloid cells may help reduce psoriasis symptoms.
28 citations
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August 2014 in “Journal of Assisted Reproduction and Genetics” The VEGF +405G allele may increase the risk of PCOS in South Indian women.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.