3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
Skin cells can naturally limit the growth of cancerous changes by balancing cell renewal and differentiation.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
April 2018 in “Journal of Investigative Dermatology” Ovol2 is important for proper skin healing and hair growth.
Low-dose glucocorticoid treatment improves pregnancy and birth rates in women with nonclassical 21-hydroxylase deficiency.
9 citations
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May 2021 in “Frontiers in Cell and Developmental Biology” DNA methylation changes in women with PCOS could be used as disease markers and suggest new treatment targets.
9 citations
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January 2015 in “Current problems in dermatology” Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
11 citations
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February 1982 in “Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis” A new method can detect mutations in mice by observing changes in hair follicle cells.
32 citations
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September 2013 in “Breast cancer research” A specific gene variant is linked to a higher risk of hair loss from chemotherapy in breast cancer patients.
1 citations
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October 2000 in “Journal of Investigative Dermatology” The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
January 2022 in “Journal of Biomedical Research & Environmental Sciences” Certain gene variations may increase the risk of PCOS in South Indian women.
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.
December 2010 in “Vestnik dermatologii i venerologii” Certain genes and X chromosome patterns may significantly contribute to the development of hair loss.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
June 2024 in “Research Square (Research Square)” Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
May 2025 in “The FASEB Journal” Targeting the TNFRSF1B gene may help treat hair loss.
June 2018 in “Journal of evolution of medical and dental sciences” Skin problems like excessive hair growth, acne, and dark skin patches can be signs of Polycystic Ovarian Disease, which may also be linked to family history and a risk for diabetes.
185 citations
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December 2010 in “Archives of Biochemistry and Biophysics” Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
21 citations
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January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
93 citations
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January 2000 in “Annals of Medicine” Mutations in the androgen receptor gene cause various disorders.
20 citations
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June 2019 in “Experimental Dermatology” The research suggests that autophagy-related genes might play a role in causing alopecia areata.
8 citations
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
April 2025 in “Molecular Biology Reports” DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
5 citations
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September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
8 citations
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January 2013 in “Medicinal chemistry” The compound 4c showed strong potential as an anticancer agent.
4 citations
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September 2019 in “Biomedical Papers/Biomedical Papers of the Faculty of Medicine of Palacký University, Olomouc Czech Republic” CD2 might be a new treatment target for patchy alopecia areata.
43 citations
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December 2013 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.