February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
35 citations
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January 2013 in “The Journal of experimental medicine/The journal of experimental medicine” CD98hc's role in skin health decreases with age.
July 1995 in “Journal of Dermatological Science” September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
CCC1 is crucial for pH balance in plant cells, affecting growth and stress tolerance.
1 citations
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July 2018 in “Journal of The American Academy of Dermatology” Sebaceous glands are often preserved and PPARy expression is constant in some cases of Central Centrifugal Cicatricial Alopecia.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
26 citations
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July 2007 in “Biochemical Pharmacology” ISCK03 stops melanin production in human melanoma cells and lightens skin color in mice and guinea pigs.
January 2022 in “Mammalian Genome” The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
March 2021 in “Arrow - TU Dublin (Technological University Dublin)” The folate-cyclodextrin conjugate targets cancer cells more precisely, potentially reducing chemotherapy side effects.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
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.
The C-CAT tool helps assess and improve treatment for central centrifugal cicatricial alopecia.
1 citations
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July 2021 in “Veterinary Medicine and Science” A cat's skin condition was fully cured with cyclosporine A after other treatments failed.
12 citations
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June 2001 in “Bioorganic & Medicinal Chemistry” Changing the C-ring structure in certain compounds can make them better at blocking a specific human enzyme.
1 citations
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December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
3 citations
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October 1994 in “Journal of Labelled Compounds and Radiopharmaceuticals” Scientists made a carbon-14 labeled version of a drug with a 48% yield and over 99% purity.
2 citations
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September 2021 in “Journal of Pathology of Nepal” Most skin cysts were common types found in unusual body parts, and examining tissue samples is important for accurate diagnosis.
37 citations
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January 2010 in “Human Molecular Genetics” FTase and GGTase-I are essential for skin keratinocyte health.
6 citations
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July 2011 in “British Journal of Dermatology” A man with KID syndrome developed a rare cancer in a long-term skin infection.
August 2019 in “Journal of The American Academy of Dermatology” Bleach baths with 0.005% hypochlorite help manage atopic dermatitis by affecting skin cells and reducing itchiness.
46 citations
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October 2012 in “Seminars in reproductive medicine” Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
48 citations
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May 2023 in “Nature Communications” Platelet-derived chemokines help muscle healing by attracting neutrophils to injured areas.
33 citations
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December 2023 in “Cell Death Discovery” Cepharanthine may help treat gastric cancer by causing cancer cell death and affecting energy use.
38 citations
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March 2010 in “Medicine” Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
A KRT32 gene variant causes loose anagen hair syndrome.
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.
10 citations
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August 2002 in “British Journal of Ophthalmology” Surgical excision is the best treatment for SCC, but intralesional cidofovir might be a good alternative.