50 citations
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September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
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247 citations
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June 2021 in “Frontiers in Cell and Developmental Biology” LncRNA Xist is crucial for X-chromosome inactivation and may be a target for treating diseases like cancer and heart issues.
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
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March 2022 in “Molecular therapy. Nucleic acids” A specific RNA, circNlgn, contributes to heart damage and scarring caused by the cancer drug doxorubicin.
18 citations
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October 2021 in “Frontiers in Physiology” Lipocalin-Type Prostaglandin D2 Synthase (L-PGDS) is a protein that plays many roles in the body, including sleep regulation, pain management, food intake, and protection against harmful substances. It also affects fat metabolism, glucose intolerance, cell maturation, and is involved in various diseases like diabetes, cancer, and arthritis. It can influence sex organ development and embryonic cell differentiation, and its levels can be used as a diagnostic marker for certain conditions.
64 citations
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November 2012 in “EMBO reports” Lamins are vital for cell survival, organ development, and preventing premature aging.
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August 2010 in “Letters in Drug Design & Discovery”
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August 2015 in “Biochemical and Biophysical Research Communications” XEDAR triggers a specific signaling pathway in cells.
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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.
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May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
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June 2024 in “Skin Research and Technology” Higher LDL lipids may increase alopecia areata risk, while higher triglycerides may decrease it.
1 citations
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November 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Signals from skin cells controlled by Rac proteins help turn certain precursor cells into white fat cells.
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August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
1 citations
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October 2023 in “BMC Genomics” miRNAs in the Dlk1-Gtl2 region may improve lamb fur quality.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
2 citations
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December 2013 in “Journal of dermatology” A specific gene mutation causes a rare hair loss condition in a Chinese patient.
June 2025 in “Skin Research and Technology” The study's findings on omega-6 and hair loss are unreliable.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
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November 2025 in “Clinical and Experimental Medicine” lncRNAs are important for understanding and treating skin diseases.
29 citations
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February 2016 in “International Journal of Dermatology” People with lichen planus are more likely to have dyslipidemia, especially higher triglyceride levels.
January 2002 in “映像情報メディア学会技術報告” Some prostate cancers have gene changes that may affect treatment with certain drugs.
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February 2023 in “Research Reports in Clinical Cardiology” Certain genes and high cholesterol levels increase heart disease risk in Ethiopian patients with high blood pressure.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
4 citations
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January 1970 in “Journal of Bangladesh College of Physicians and Surgeons” Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” 848 genes related to fat and metabolism are less active in people with Central Centrifugal Cicatricial Alopecia.
February 2024 in “Clinical, Cosmetic and Investigational Dermatology” Certain fats in the blood are linked to an increased risk of male pattern baldness.
January 2022 in “SSRN Electronic Journal” LncRNA RP11-818024.3 helps hair growth and recovery in hair loss by boosting cell survival and reducing cell death.
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January 2016 in “Development” LHX2 is essential for hair follicle development, controlled by NF-κB and TGFβ2 signaling.
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June 2017 in “Reproductive biomedicine online” A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.