13 citations
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September 2022 in “Biomolecules” The research confirms that Hidradenitis Suppurativa is characterized by increased inflammation, disrupted skin cell organization, and abnormal metabolic processes.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
8 citations
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September 2017 in “Scientific Reports” MAD2B slows down the growth of skin cells that are important for hair development by interacting with TCF4.
10 citations
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January 2010 in “Veterinary pathology” A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.
April 2023 in “Journal of Investigative Dermatology” Skin cells and immune cells change in a skin condition called hidradenitis suppurativa, and a certain treatment can improve these changes.
March 2025 in “Nature Communications” NSC167409 can effectively inhibit the virus causing hand, foot, and mouth disease.
A KRT32 gene variant causes loose anagen hair syndrome.
4 citations
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December 2022 in “Advanced science” SCD1 is important for hair growth by keeping the connection in skin cells where hair stem cells live stable.
3 citations
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May 1990 in “Journal of Steroid Biochemistry” Some women with excess hair growth have a hormone condition that can't be diagnosed by blood or urine tests alone.
2 citations
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December 2022 in “The Journal of Dermatology” Patients with hidradenitis suppurativa have higher levels of cell-free DNA in their blood.
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.
1 citations
,
January 2024 in “Pediatric Endocrinology Diabetes and Metabolism” Cinacalcet may help treat hereditary vitamin D resistant rickets safely.
91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
3 citations
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January 2025 in “动物学研究” The gene GJA1 is important for regulating coarse hair density in goats.
3 citations
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July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
15 citations
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February 2015 in “Cell & tissue research/Cell and tissue research” P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
July 2016 in “Journal of Investigative Dermatology” R-spondin2 may help treat hair loss, gene differences could explain baldness, a peptide's regulation is linked to psoriasis, B-defensin gene copies may affect a skin condition's risk and severity, and potential markers and targets for alopecia areata were identified.
October 2020 in “The American Journal of Gastroenterology” Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
December 2013 in “Appetite” A defective gene causes hair loss and taste insensitivity in BTBR mice.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
Lhx2 is essential for effective Sonic Hedgehog signaling in early retinal development.
32 citations
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November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
2 citations
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January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
74 citations
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October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
318 citations
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October 1998 in “The Journal of Cell Biology” Keratin 17 is important for skin development and may help define skin cell types.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
1 citations
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October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Heat shock proteins help basal cell carcinoma grow by responding to inflammation signals.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.