6 citations
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April 2018 in “Transplantation proceedings” A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.
54 citations
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November 2001 in “Urology” The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
81 citations
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November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
2 citations
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October 2020 in “Journal of Pharmacology and Experimental Therapeutics” Minoxidil does not work to inhibit lysyl hydroxylases in newborn mouse lungs.
5 citations
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August 2024 in “Skin Research and Technology” KLB and EIF3C genes are key for early diagnosis of vitiligo and alopecia areata.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
April 2018 in “Journal of Investigative Dermatology” Glycogen metabolism is important for energy and processes in human hair follicles, and hair follicles may produce glucose from lactate.
2 citations
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September 1998 in “Der Hautarzt” A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
January 2026 in “Preprints.org” Four new FGF5 gene variants cause long hair in dogs.
2 citations
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May 2023 in “Journal of Advanced Research” Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
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.
44 citations
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November 2009 in “Archives of Dermatology” CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
2 citations
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July 2019 in “PLOS ONE” Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
February 2013 in “Journal of the American Academy of Dermatology” Certain gene variations might increase the risk of a hair loss condition in Koreans.
4 citations
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January 2017 in “PubMed” A girl with lupus had unusually long and thick eyelashes, a rare symptom of her condition.
Meis2 is essential for touch sensation and proper nerve connection to touch receptors in certain skin areas of mice.
April 2024 in “Journal of microbiology and biotechnology”
3 citations
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August 2014 in “Journal of The American Academy of Dermatology” Filaggrin mutations are linked to atopic dermatitis and help explain how genetics and environment affect the disease.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
36 citations
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June 2021 in “Experimental & Molecular Medicine” Targeting Hedgehog signaling may help treat ligamentum flavum fibrosis.
Lichen planus commonly affects middle-aged adults, often involves limbs and mucosal areas, and can be linked to immune diseases.
8 citations
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November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
45 citations
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January 1977 in “Advances in experimental medicine and biology” Hair follicles have an enzyme that converts arginine to citrulline in proteins.
3 citations
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February 2019 in “Animal biotechnology” The PLP2 gene affects cashmere fiber quality in goats and is linked to hair growth and loss.
June 2026 in “Frontiers in Cell and Developmental Biology” LHX2 is crucial for development, tissue repair, and preventing diseases.
24 citations
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November 1997 in “Journal of Biological Chemistry” Mouse high-glycine/tyrosine proteins have distinct patterns in hair follicles, peaking at specific hair cycle days.
12 citations
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July 2015 in “Experimental Dermatology” Gasdermin A3 overexpression in skin causes inflammation and hair loss.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
9 citations
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February 2012 in “Clinical Neurology and Neurosurgery” Dystonia may be part of PAS-4 and linked to immune issues.
13 citations
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June 2018 in “Journal of histochemistry and cytochemistry/The journal of histochemistry and cytochemistry” Laminin-511 may contribute to psoriasis by affecting skin cell growth and survival.