118 citations
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August 2010 in “Developmental Cell” MIM is crucial for hair follicle formation and regeneration by controlling cilia formation and hedgehog signaling through its interaction with Cortactin and Src.
1 citations
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July 2023 in “Nature communications” MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
May 2021 in “Histochemistry and Cell Biology” The May issue discussed publishing agreements and four studies on cholesterol in hair, cancer cell changes, hormones in the uterus, and skin protein effects.
32 citations
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March 2018 in “Neoplasia” Nephronectin is linked to worse breast cancer outcomes and helps cancer spread.
1 citations
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May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
June 2020 in “Journal of genetic medicine” The document's conclusion cannot be provided because the document is not accessible or understandable.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
6 citations
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February 2022 in “The journal of neuroscience/The Journal of neuroscience” Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.
12 citations
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July 1979 in “International Journal of Dermatology” A patient with zinc depletion improved after zinc supplementation during parenteral nutrition.
37 citations
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February 2005 in “Journal of Investigative Dermatology” Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
21 citations
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January 1988 in “Critical Care Medicine” Critically ill patients may experience temporary hair loss after a fever.
11 citations
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January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
25 citations
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December 2005 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
5 citations
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April 2023 in “Life” CCCA affects adolescents too, with genetic and environmental links, requiring careful diagnosis.
22 citations
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September 2011 in “Journal of Investigative Dermatology” TCF/Lef1 is essential for skin barrier function by regulating lipid metabolism.
5 citations
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February 2019 in “The New England Journal of Medicine” Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
11 citations
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November 1991 in “Journal of Neuropathology & Experimental Neurology” Brindled mice show abnormal catecholamine neuron development due to copper deficiency.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
2 citations
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
3 citations
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April 2009 in “Pediatrics in review” Doctors need to recognize and treat metabolic disorders in children early to prevent serious health issues.
76 citations
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May 2011 in “Liver transplantation” Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
15 citations
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February 2020 in “Journal of Investigative Dermatology” Ceramide Synthase 4 is crucial for healthy skin barrier function.
6 citations
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January 2013 in “Case reports in endocrinology” The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
September 2024 in “Journal of Medical Case Reports” People with keratosis pilaris might be more likely to get a rare type of tinea versicolor.
2 citations
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July 2009 in “Mayo Clinic Proceedings” A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.