137 citations
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October 2009 in “The American journal of pathology” Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
January 2017 in “Springer eBooks” 9 citations
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July 2014 in “PubMed” Different S100 proteins have specific roles in various parts of the hair follicle.
22 citations
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December 2020 in “mSphere” A fungal enzyme was used to make compounds more soluble, aiding drug discovery and crop protection.
63 citations
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November 2009 in “British journal of dermatology/British journal of dermatology, Supplement” Sub3 is essential for fungus adherence but not for skin invasion.
January 2011 in “대한피부과학회지” A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
January 2025 in “Frontiers in Immunology” IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
28 citations
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October 1992 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” SIP is a better method for measuring hair growth accurately.
November 2022 in “Journal of the Endocrine Society” Always consider xanthomatous hypophysitis before deciding on pituitary surgery.
34 citations
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May 2021 in “Journal of Nanobiotechnology” The 3D electrospun fibrous sponge is promising for tissue repair and healing diabetic wounds.
January 1995 in “Seoul National University Open Repository (Seoul National University)” SSO helps in skin protection and keratinization.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
7 citations
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December 1970 in “Biochimica et Biophysica Acta (BBA) - Protein Structure” January 2019 in “CLINICAL AND EXPERIMENTAL MORPHOLOGY”
April 2026 in “Cellular and Molecular Immunology” SPT6 prevents excessive skin inflammation by blocking a feedback loop.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
L-PGDS has specific binding sites for its functions and could help in drug delivery system design.
15 citations
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November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
April 2024 in “Molecules/Molecules online/Molecules annual” The composite sponge helps heal diabetic wounds by reducing inflammation and promoting new blood vessel growth.
37 citations
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April 2015 in “Development Growth & Differentiation” The Hippo signaling pathway helps control organ size during regeneration by regulating gene expression.
15 citations
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November 2022 in “Cell Death and Disease” CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.
February 2025 in “Journal of Paediatrics and Child Health” Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
9 citations
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January 2012 in “International journal of trichology” Trichostasis spinulosa can be diagnosed with a simple skin biopsy and treated with specific gels, but lesions may return after stopping treatment.
15 citations
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October 1936 in “Archives of Dermatology” Cystine is crucial for forming keratin in hair, wool, and nails.
14 citations
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March 2014 in “Journal of The American Academy of Dermatology” Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
147 citations
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August 2005 in “The Plant Cell” The TIP1 gene is crucial for normal plant cell growth in Arabidopsis.
Tjalma Syndrome is a rare condition in people with lupus, causing fluid buildup and high CA-125 levels, but not due to tumors.