82 citations
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September 2020 in “Briefings in Bioinformatics” SARS-CoV-2 may worsen IPF due to shared genes and pathways, suggesting potential drug targets.
2 citations
,
May 2007 in “Pediatrics in Review” Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
January 2003 in “Springer eBooks” Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
226 citations
,
January 2006 in “International review of cytology” Keratin-associated proteins are crucial for hair strength and structure.
166 citations
,
November 2008 in “Expert Review of Endocrinology & Metabolism” Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
130 citations
,
April 2003 in “Journal of Investigative Dermatology” Four specific keratins in hair follicles help understand hair structure and function.
50 citations
,
February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
38 citations
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November 2020 in “International journal of biochemistry & cell biology” Keratin proteins are essential for keeping the cells in the human colon healthy and stable.
31 citations
,
November 2003 in “Journal of Occupational Health” Thioglycolic acid in hair products may pose reproductive and cancer risks for hairdressers.
10 citations
,
September 2023 in “Metabolites” Iron is crucial for skin health, with specific proteins recycling it to support skin functions and prevent its release.
8 citations
,
January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
5 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
4 citations
,
February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
4 citations
,
January 2021 in “Genetics and Molecular Biology” COVID-19 treatments and vaccines face challenges due to genetic differences in people and the virus.
3 citations
,
November 2019 in “Journal of the ASEAN Federation of Endocrine Societies” A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
March 2021 in “AACE clinical case reports” A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
10 citations
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January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
September 2023 in “The Journal of clinical endocrinology and metabolism” Genetic risk for PCOS can affect children's growth, metabolism, and development from early life into adulthood.
9 citations
,
September 2024 in “Frontiers in Endocrinology” Platelet-rich plasma infusion improved pregnancy outcomes for women with thin endometrium.
August 2023 in “Fermentation” Scientists can use engineered microbes to make L-aspartate and related chemicals, but there's still room to improve their efficiency.
2 citations
,
October 2012 in “Experimental Dermatology” Deleting the Sox21 gene changes hair lipid composition and increases cholesterol sulfate levels.
January 2025 in “Case Reports in Oncological Medicine” Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.
66 citations
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August 2007 in “Applied and environmental microbiology” The engineered yeast strain BLYAS can quickly and sensitively detect androgenic chemicals.
26 citations
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February 2021 in “FEBS Journal” Targeting regulatory T cells may help treat age-related diseases.
18 citations
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January 2009 in “Experimental Dermatology” mTOR may link different pathways in hair follicle tumor formation.
11 citations
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October 2023 in “mSphere” PrrH sRNA controls pyochelin production in *Pseudomonas aeruginosa*.
9 citations
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May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
7 citations
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January 2025 in “Journal of Experimental & Clinical Cancer Research” PRMT5 inhibitors effectively fight adenoid cystic carcinoma in salivary glands.
5 citations
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December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
4 citations
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April 2008 in “Experimental Dermatology” Nicotine from smoking may worsen hidradenitis suppurativa by affecting immune function and promoting inflammation.