47 citations
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September 2002 in “Journal of Bone and Mineral Research” A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
33 citations
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January 2007 in “Pediatric dermatology” Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
DOPE:DOPC liposomes can improve targeted cancer drug delivery, reducing side effects and increasing effectiveness.
60 citations
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March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
24 citations
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February 1986 in “Cancer” A pancreatic tumor caused high glucagon levels and symptoms, but treatment reduced glucagon and shrank liver tumors.
4 citations
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June 2023 in “Frontiers in Aging” Improving blood flow and oxygen levels in middle age may help prevent age-related diseases.
October 2025 in “Journal of the Endocrine Society” A rare pituitary tumor in an 18-year-old male caused hormonal issues and vision loss, requiring surgery and further treatment.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
January 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” Armadillo Repeat Only proteins are essential for proper plant growth and response by regulating calcium channels.
Defective protein folding due to a mutation is key in ANE syndrome.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
2 citations
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June 2025 in “Preprints.org” Targeting amphiregulin may improve treatment for fibrotic diseases and cancer.
4 citations
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July 2025 in “International Journal of Molecular Sciences” Targeting amphiregulin may improve treatment for fibrosis and cancer.
25 citations
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November 2018 in “Cell reports” The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
RXR and RAR proteins in skin may help with cell growth, hair growth, and gland function.
39 citations
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August 1998 in “FEBS Letters” Two new enzymes, PAD-R11 and PAD-R4, were cloned and showed activity, with PAD-R11 resembling epidermal enzymes.
12 citations
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February 1998 in “Gene” The B2 genes are crucial for hair growth in rats.
September 2022 in “Research Square (Research Square)” Increasing Rps14 helps grow more inner ear cells and repair hearing cells in baby mice.
59 citations
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January 1976 in “Vitamins and hormones” Prostate cells have proteins that bind to specific hormones, which can increase protein production when activated by these hormones.
84 citations
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September 2008 in “Developmental biology” Retinoic acid-binding proteins in skin are regulated by β-catenin and Notch signalling.
6 citations
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June 2011 in “British Journal of Dermatology” People with alopecia areata have higher levels of RBP4 protein and antibodies against it.
April 2018 in “Journal of Investigative Dermatology” High amphiregulin in the skin is a bad sign for acute graft-versus-host disease.
January 2024 in “Wiadomości Lekarskie” The ABI1 gene contributes to prostate cancer progression and treatment resistance.
1 citations
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February 1991 in “Journal of Biological Chemistry”
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.