July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
5 citations
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January 2018 The conclusion is that a new test was created to find substances that affect specific ion channels, and it works well for drug discovery.
January 2016 in “Texas ScholarWorks (Texas Digital Library)” DORN1 receptor affects eATP-induced stomatal changes but not eADP in Arabidopsis thaliana.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
175 citations
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September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
January 2024 in “Research Square (Research Square)” A specially designed molybdenum oxide nanozyme can treat and monitor acute kidney injury effectively.
2 citations
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April 2013 in “Expert Review of Endocrinology & Metabolism” Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
2 citations
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September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
August 2019 in “Anais Brasileiros de Dermatologia” 17 citations
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September 2018 in “Matrix Biology” Laminin-511 is essential for proper melanocyte movement and development in mice.
1 citations
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August 2024 in “Polymers” The P25H5-O microneedles effectively deliver substances through hair follicles and are safe for skin cells.
March 2023 in “Oxford University Press eBooks” The document's conclusion cannot be determined from the provided text.
1 citations
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April 2022 in “The Journal of Urology” Both penicillamine and tiopronin have significant side effects, but trying the alternative drug can be beneficial if the first is not tolerated.
175 citations
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August 1997 in “Nature Genetics”
September 2017 in “Journal of Investigative Dermatology” Finasteride helps female-pattern hair loss.
February 2019 in “International Journal of Dermatology and Clinical Research” Nε-(carboxymethyl) lysine delays hair growth by blocking a key protein.
5 citations
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May 2023 in “Microbial Cell Factories” A stable, active version of a growth factor was made in bacteria, showing promise for medical use.
24 citations
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July 1980 in “Journal of Toxicology and Environmental Health” High doses of norethindrone acetate in rats caused various organ changes but didn't significantly increase tumor rates.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
January 2006 in “Dianzi xianwei xuebao” Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
January 2005 in “Dermatology”
10 citations
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September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
4 citations
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December 2016 in “Blood” A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
1 citations
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October 2019 in “International journal of contemporary pediatrics” A 12-year-old boy with twenty nail dystrophy, a condition affecting all nails, was treated conservatively due to its self-limiting nature and good prognosis.
November 2008 in “Hair transplant forum international” The document's conclusion cannot be determined.
46 citations
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December 1998 in “Journal of Biological Chemistry” Keratin 19 forms less stable and shorter filaments than keratin 14, giving unique traits to certain skin cells.
53 citations
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July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.