CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
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.
3 citations
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January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
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.
11 citations
,
January 2010 in “Journal of oral and maxillofacial surgery”
25 citations
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July 1991 in “International Journal of Dermatology” Toxic Epidermal Necrolysis is a rare, serious skin condition that can affect anyone, is more common in women, and may be linked to genetics, with a 20% mortality rate mainly due to sepsis.
39 citations
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November 2007 in “Journal of Histochemistry & Cytochemistry” NG2 is crucial for normal skin and hair development in mice.
3 citations
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May 2013 in “International journal of molecular sciences” Epidermal stem cells show promise for treating orthopedic injuries and diseases.
2 citations
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December 2023 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” The document suggests a new way to categorize skin and mind disorders into two main groups to reduce confusion.
5 citations
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January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
51 citations
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May 2021 in “Nature Communications” High proliferation and cell delamination drive early skin development, while later stages may not rely on cell division orientation.
2 citations
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February 2009 in “Clinical and Experimental Dermatology” A man had rare skin tumors with bone formation and cholesterol deposits.
January 2021 in “Electronic Theses of LMU Munich (Ludwig-Maximilians-Universität München)” N-Cadherin is crucial in scar formation, offering potential for scar prevention therapies.
29 citations
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September 1989 in “Journal of The American Academy of Dermatology” Abnormal scalp whorls can indicate brain development issues but may also be seen in neurologically normal people.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
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.
June 2006 in “British Journal of Dermatology” The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
7 citations
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August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
7 citations
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July 2003 in “Clinics in Dermatology” The article helps identify common, non-harmful skin conditions in newborns to avoid undue concern and treatment.
6 citations
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December 2022 in “International Journal of Molecular Sciences” EZH2 is crucial for uterine gland development and female fertility.
28 citations
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August 2001 in “Journal of cutaneous medicine and surgery” People with Down's syndrome often have more skin problems due to a weak immune system.
3 citations
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December 2014 in “Annals of Laboratory Medicine” A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
September 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Special gut cells help stem cells move to and fix injured areas by activating a specific signaling pathway.
49 citations
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August 1999 in “Journal of Investigative Dermatology” Overexpressing the MSX-2 gene in mice causes skin and hair growth issues.
1 citations
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May 2023 in “Cutis” Eating disorders can cause skin problems, which may help with early diagnosis and treatment.
42 citations
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October 2011 in “Seminars in Cell & Developmental Biology” Eph/ephrin signaling is important for skin cell behavior and could be targeted to treat skin diseases.
2 citations
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January 2022 in “International journal of trichology” Eruptive vellus hair cysts are often missed in diagnoses.
1 citations
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March 2024 in “Pediatric Dermatology” Neonatal nasal injuries can heal with basic care but often leave scars.
April 2020 in “International journal of research in dermatology” An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
January 2016 in “Elsevier eBooks” The conclusion is that grasping how cells determine their roles through evolution is key, with expected progress from new research models and genome editing.