1 citations
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September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
344 citations
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June 2006 in “American Journal Of Pathology” Human hair follicles can provide stem cells for regenerative medicine.
4 citations
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December 2013 in “British Journal of Dermatology” ESR2 gene linked to female-pattern hair loss.
39 citations
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December 1998 in “Journal of Cell Science” The LEF-1 binding site enhances gene expression in hair follicles, with other proteins aiding specific regulation.
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August 2023 in “Journal of cutaneous pathology” The analysis of a large pilomatricoma revealed five distinct areas with different gene activity related to hair growth and tumor development.
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December 1988 in “Journal of Investigative Dermatology”
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April 2017 in “Journal of Investigative Dermatology” A new one-step test can quickly identify skin cancer during surgery.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
3 citations
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September 2016 in “British Journal of Dermatology” Warts in HIV-positive men can have serious abnormal cell growth, needing careful analysis and treatment to prevent cancer.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
26 citations
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February 1998 in “Chemico-Biological Interactions” Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.
June 2022 in “Indian journal of clinical and experimental opthalmology” The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
13 citations
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August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
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June 2012 in “American Journal of Dermatopathology” A rare neck cyst in a 47-year-old man showed diverse skin cell types and was not linked to HPV.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” VHL disease can cause early paragangliomas, needing lifelong monitoring.
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November 2011 in “The American journal of pathology” Abnormal Hedgehog signaling in blood cancers may help tumors grow and resist chemotherapy, suggesting potential for targeted treatments.
March 2010 in “European Journal of Cancer Supplements” 4 citations
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October 2023 in “African Journal of Urology” Older parental age, rural living, and specific genetic mutations increase hypospadias risk in children.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is important for controlling the hair growth cycle in mice and humans.
April 2017 in “Plastic & Reconstructive Surgery Global Open” Hyaluronan from Has2 is important for proper wound healing and hair follicle development.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” KIF18B is important for correctly positioning cell division machinery in skin cells, affecting hair follicle development.
21 citations
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January 2023 in “International Journal of Molecular Sciences” S100A6 protein is linked to disease progression, especially in cancers.
61 citations
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September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
36 citations
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March 2011 in “Stem Cell Reviews and Reports” May 2000 in “Journal of Investigative Dermatology” Hedgehog signaling is crucial for hair development, cadherins affect cell adhesion, neutrophils play a role in skin lesions, and BP230 autoantibodies impact skin stability.
September 2023 in “Journal of the American Academy of Dermatology” Hispanic patients in the USA have lower survival rates for melanoma compared to non-Hispanic Whites.
13 citations
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February 2024 in “World Journal of Stem Cells” New markers help understand and use hair follicle stem cells for regeneration.