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.
9 citations
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February 2012 in “Clinical Neurology and Neurosurgery” Dystonia may be part of PAS-4 and linked to immune issues.
150 citations
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June 1999 in “Oncogene”
June 2017 in “Acta Scientiae Veterinariae” A cat with a rare pancreatic tumor and diabetes died despite treatment, showing similar symptoms to a human condition.
4 citations
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July 2012 in “Genesis” The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
November 2025 in “Journal of Diabetes Investigation” Dapagliflozin improved blood sugar control in a man with Werner syndrome without side effects.
82 citations
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July 2012 in “Brain pathology” High LGR5 levels in glioblastoma indicate poor prognosis and are essential for cancer stem cell survival.
The microenvironment affects the behavior and survival of melanocytes with the GNAQ oncogene in melanoma.
35 citations
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August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
305 citations
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March 2008 in “AJP Endocrinology and Metabolism” SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
December 2019 in “Thèses en ligne de l'Université Toulouse III (Université Toulouse III)” EGM2 and SOX2 help form beige adipocytes by maintaining ASC immaturity and activating brown adipocytes.
38 citations
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April 2017 in “PLOS Genetics” GRHL3 is important for controlling gene activity in skin cells during different stages of their development.
November 2022 in “Journal of Investigative Dermatology” Dynlt3 is important for melanosome transport and skin coloration.
2 citations
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September 2011 in “InTech eBooks” The document outlines steps for moving fat from one body part to another.
49 citations
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January 1972 in “Biochimica et Biophysica Acta (BBA) - Protein Structure”
December 2021 in “Research Square (Research Square)” S100A4 and NMIIA promote tumor growth in glioblastoma by enhancing blood vessel functions.
11 citations
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January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
26 citations
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April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
3 citations
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January 2017 in “Acta Dermato Venereologica” Lipid-antigen stimulation may play a role in folliculotropic mycosis fungoides.
55 citations
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November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
Keratinocytes can reduce the survival of certain melanoma cells, suggesting new therapy paths.
8 citations
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June 1981 in “Clinica Chimica Acta” 2 citations
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November 1996 in “Transplantation” Injecting recipient splenocytes into donors' thymus can prevent graft-versus-host disease.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
19 citations
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February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
53 citations
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March 2003 in “Journal of Investigative Dermatology” Human skin cells have a high-affinity system for biotin transport, crucial for skin health.