74 results on '"Gene mutation -- Health aspects"'
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2. Investigators at University College Describe Findings in Membrane Transport Proteins (Disease-associated Missense Mutations In Glun2b Subunit Alter Nmda Receptor Ligand Binding and Ion Channel Properties)
3. Findings from VIB Center for Inflammation Research in Neuropathy Reported (Sensory Neuropathy-causing Mutations In Atl3 Affect Er-mitochondria Contact Sites and Impair Axonal Mitochondrial Distribution)
4. Findings from University of Oxford in Molecular and Cellular Biology Reported (Unravelling Intratumoral Heterogeneity Through High-sensitivity Single-cell Mutational Analysis and Parallel Rna Sequencing)
5. Findings from University of Oxford in Epilepsy Reported (The Epilepsy-associated Protein Tbc1d24 Is Required for Normal Development, Survival and Vesicle Trafficking In Mammalian Neurons)
6. New Lung Cancer Findings from Capital Medical University Outlined (High Expression of Rad51 Promotes Dna Damage Repair and Survival In Kras-mutant Lung Cancer Cells)
7. New Hypophosphatasia Study Findings Reported from Emory University (A Rare Mutation In Hypophosphatasia: a Case Report of Adult Form and Review of the Literature)
8. New Gastric Cancer Study Findings Reported from National Cancer Center (Functional Loss of P53 Cooperates With the In Vivo Microenvironment To Promote Malignant Progression of Gastric Cancers)
9. New Findings from University of Nebraska in the Area of Glioblastomas Reported (Comprehensive Genetic Alteration Profiling In Primary and Recurrent Glioblastoma)
10. New Findings Reported from Fujian Medical University Describe Advances in Human Genetics (Spectrum of Slc20a2, Pdgfrb, Pdgfb, and Xpr1 Mutations In a Large Cohort of Patients With Primary Familial Brain Calcification)
11. Findings from University of Rome Provides New Data on Camptothecin Therapy (The Human Dna Topoisomerase I Mutant Gly717asp: Higher Religation Rate Is Not Always Associated With Camptothecin Resistance)
12. Findings from University of Parma Yields New Findings on Mononuclear Phagocyte System (Analysis of Lpi-causing Mutations On Y+lat1 Function and Localization)
13. Findings from University of Iowa in the Area of Glaucoma Reported (Histochemical Analysis of Glaucoma Caused by a Myocilin Mutation in a Human Donor Eye)
14. Reports Outline Molecular Biology Study Findings from University of Texas Southwestern Medical Center (Drosophila p53 directs non-apoptotic programs in postmitotic tissue)
15. Findings from Mackay Memorial Hospital in Mitochondrial Diseases and Conditions Reported (Oxidative Insults and Mitochondrial Dna Mutation Promote Enhanced Autophagy and Mitophagy Compromising Cell Viability In Pluripotent Cell Model of ...)
16. Findings from M. Barreda-Sanchez and Colleagues Update Understanding of Personalized Medicine (High Penetrance of Acute Intermittent Porphyria In a Spanish Founder Mutation Population and Cyp2d6 Genotype As a Susceptibility Factor)
17. Findings from Kaohsiung Medical University Provides New Data about Liver Cancer (Somatic Mutations of Prex2 Gene In Patients With Hepatocellular Carcinoma)
18. Findings from J. Rochette and Co-Authors Provide New Insights into Cancer (Trimming Down To Trim37: Relevance To Inflammation, Cardiovascular Disorders, and Cancer In Mulibrey Nanism)
19. Findings from F.M. Pisani and Colleagues Update Understanding of Adenosine Triphosphatases (Molecular and Cellular Functions of the Warsaw Breakage Syndrome Dna Helicase Ddx11)
20. Findings from A.K. Tsaturyan and Co-Researchers Advance Knowledge in Cardiomyopathies (The Effects of Cardiomyopathy-associated Mutations In the Head-to-tail Overlap Junction of Alpha-tropomyosin On Its Properties and Interaction With Actin)
21. Findings on Gastric Cancer Discussed by Investigators at Pasteur Institute (Characterization of Pi3kca and Braf Mutations In Gastric Adenocarcinoma: an Approach To a Personalized Targeted Therapy for Moroccan Her2 Overexpressed Patients)
22. Findings in the Area of Myoclonus Reported from Guangxi Medical University (Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: Case report)
23. Investigators at Leiden University Medical Center Zero in on Chondrosarcoma (Exploration of the chondrosarcoma metabolome; the mTOR pathway as an important pro-survival pathway)
24. Investigators at Division of Cancer Epidemiology and Genetics Report Findings in Solid Cancer (Mosaic Y Loss Is Moderately Associated With Solid Tumor Risk)
25. Investigators at Chang Gung University Describe Findings in Hepatitis B Virus (Mutations In Notch1 and Nucleotide Excision Repair Genes Are Correlated With Prognosis of Hepatitis B Virus-associated Hepatocellular Carcinoma)
26. Findings on Paragangliomas Detailed by Investigators at Department of Radiology (Succinate Dehydrogenase Mutations: Paraganglioma Imaging and At-risk Population Screening)
27. Researchers at University of Duisburg-Essen Discuss Findings in Acute Liver Failure (Clinical Outcome and Viral Genome Variability of Hepatitis B Virus-Induced Acute Liver Failure)
28. Researchers at Soochow University Target Lung Cancer (Apatinib for Treatment of Hgf In Advanced Lung Adenocarcinoma Harboring Egfr Activating Mutation: a Case Report and Review of Literature)
29. Researchers at Shenzhen University Report New Data on Squamous Cell Carcinoma (Overexpression of Taf1l Promotes Cell Proliferation, Migration and Invasion In Esophageal Squamous Cell Carcinoma)
30. Reports from University of Wisconsin Provide New Insights into Molecular Cancer and Carcinogenesis (Mtorc1/2 Inhibition As a Therapeutic Strategy for Pik3ca Mutant Cancers)
31. Reports from K.L. Davis et al Highlight Recent Findings in Non-Small Cell Lung Cancer (Real-world Treatment Patterns and Survival of Patients With Braf V600-mutated Metastatic Non-small Cell Lung Cancer)
32. Reports Outline Lung Cancer Findings from University of Paris Sud (PARP inhibition enhances tumor cell-intrinsic immunity in ERCC1-deficient non-small cell lung cancer)
33. New Thyroid Cancer Findings from A. Scillitani and Co-Authors Described (Parathyroid Carcinoma)
34. New Medical Genetics Study Findings Have Been Reported by Investigators at Children's Hospital (Mutations In Wdr4 As a New Cause of Galloway-mowat Syndrome)
35. New Enterococcus faecium Findings from Sapporo Medical University Discussed (Contribution of Type Ii Topoisomerase Mutations To Fluoroquinolone Resistance In Enterococcus Faecium From Japanese Clinical Setting)
36. Investigators from Shandong University Target LDL Lipoproteins (Pcsk9 Inhibitors: Novel Therapeutic Strategies for Lowering Ldl-cholesterol)
37. Findings on Junctional Epidermolysis Bullosa Reported by Investigators at University of Freiburg (Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine)
38. Findings on Hypopituitarism Reported by Researchers at National and Kapodistrian University of Athens (Congenital Hypopituitarism: Various Genes, Various Phenotypes)
39. Findings on Colon Cancer Reported by Investigators at Chungnam National University (Schedule-dependent Synergistic Effects of 5-fluorouracil and Selumetinib In Kras or Braf Mutant Colon Cancer Models)
40. Findings from Washington University Yields New Findings on Myopathy (Loss of Lipin 1-mediated Phosphatidic Acid Phosphohydrolase Activity In Muscle Leads To Skeletal Myopathy In Mice)
41. Findings from J.M. Rosa-Rosa et al in Carcinomas Reported (High Frequency of Erbb2 Activating Mutations In Invasive Lobular Breast Carcinoma With Pleomorphic Features)
42. Data on Severe Combined Immunodeficiency Reported by P. Soulas-Sprauel and Co-Researchers [Severe Combined Immunodeficiency In Stimulator of Interferon Genes (Sting) V154m/wild-type Mice]
43. Data on Medical Research Detailed by Researchers at Shandong University (Late-onset mitochondrial disease in a patient with MELAS and mitochondrial DNA T14487C mutation)
44. Data on Ectodermal Dysplasia Described by Researchers at Division of Dermatology (Basan Gets a New Fingerprint: Mutations In the Skin-specific Isoform of Smarcad1 Cause Ectodermal Dysplasia Syndromes With Adermatoglyphia)
45. Data from University of California Provide New Insights into Medical Genetics (Heterozygous Wnt1 Variant Causing a Variable Bone Phenotype)
46. Study Data from Academic Medical Center Provide New Insights into Morbid Obesity (The Role of Obesity In the Fatal Outcome of Schaaf-yang Syndrome: Early Onset Morbid Obesity In a Patient With a Magel2 Mutation)
47. New Adenomatous Polyposis Coli Study Results from Mashhad University of Medical Sciences Described [Role of adenomatous polyposis coli (APC) gene mutations in the pathogenesis of colorectal cancer; current status and perspectives]
48. Findings from Kuwait University in the Area of Chemotherapy Described (ERG6 and ERG2 Are Major Targets Conferring Reduced Susceptibility to Amphotericin B in Clinical Candida glabrata Isolates in Kuwait)
49. Findings from A.M. Abdallah and Colleagues Provides New Insights into Dilated Cardiomyopathy (Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy)
50. Data on Neurofibromatosis Type 1 Reported by Researchers at National Cancer Institute (Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define pre-malignant neurofibromatosis type 1-associated atypical neurofibromas)
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