Pages that link to "Q30448340"

The following pages link to An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. (Q30448340):

Displaying 42 items.

• De novo mutations in moderate or severe intellectual disability (Q21144861) (← links)
• Structural and physico-chemical effects of disease and non-disease nsSNPs on proteins (Q26865027) (← links)
• Molecular mechanisms of disease-causing missense mutations (Q27021940) (← links)
• A Fluorescent Live Imaging Screening Assay Based on Translocation Criteria Identifies Novel Cytoplasmic Proteins Implicated in G Protein-coupled Receptor Signaling Pathways (Q27311653) (← links)
• X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (Q28065632) (← links)
• ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. (Q30660227) (← links)
• The promise of whole-exome sequencing in medical genetics (Q34382912) (← links)
• Enhancing human spermine synthase activity by engineered mutations (Q34611078) (← links)
• Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology (Q34657526) (← links)
• Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation (Q34698731) (← links)
• Multiple actions of phi-LITX-Lw1a on ryanodine receptors reveal a functional link between scorpion DDH and ICK toxins (Q34720150) (← links)
• Differential gene expression of cardiac ion channels in human dilated cardiomyopathy (Q35067294) (← links)
• Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review (Q35575754) (← links)
• Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy (Q36473339) (← links)
• Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism (Q36480535) (← links)
• SAAMBE: Webserver to Predict the Charge of Binding Free Energy Caused by Amino Acids Mutations (Q36847179) (← links)
• HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study (Q36861284) (← links)
• The Caenorhabditis elegans Excretory System: A Model for Tubulogenesis, Cell Fate Specification, and Plasticity (Q36875639) (← links)
• Association of anti-CLIC2 and anti-HMGB1 autoantibodies with higher disease activity in systemic lupus erythematosus patients (Q38598212) (← links)
• A guide to the 3D structure of the ryanodine receptor type 1 by cryoEM. (Q38964992) (← links)
• SAAFEC: Predicting the Effect of Single Point Mutations on Protein Folding Free Energy Using a Knowledge-Modified MM/PBSA Approach (Q39857355) (← links)
• On human disease-causing amino acid variants: statistical study of sequence and structural patterns (Q39951577) (← links)
• Chloride intracellular channel proteins respond to heat stress in Caenorhabditis elegans. (Q41492916) (← links)
• A novel de novo calmodulin mutation in a 6-year-old boy who experienced an aborted cardiac arrest (Q41885182) (← links)
• A rational free energy-based approach to understanding and targeting disease-causing missense mutations (Q42250997) (← links)
• Genomic structural variations lead to dysregulation of important coding and non-coding RNA species in dilated cardiomyopathy. (Q46261379) (← links)
• Anion Channels of Mitochondria (Q46470744) (← links)
• Prenatal diagnosis of sex chromosomal inversion, translocation and deletion (Q47276117) (← links)
• Association of FK506 binding proteins with RyR channels - effect of CLIC2 binding on sub-conductance opening and FKBP binding. (Q47709918) (← links)
• Advances in Human Biology: Combining Genetics and Molecular Biophysics to Pave the Way for Personalized Diagnostics and Medicine (Q59042601) (← links)
• Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains (Q62320846) (← links)
• Three Decades of Chloride Intracellular Channel Proteins: From Organelle to Organ Physiology (Q64355460) (← links)
• Inherent flexibility of CLIC6 revealed by crystallographic and solution studies (Q88548688) (← links)
• Analysis of protein missense alterations by combining sequence- and structure-based methods (Q89874776) (← links)
• Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features (Q89951276) (← links)
• Intracellular Chloride Channels: Novel Biomarkers in Diseases (Q89964439) (← links)
• In silico analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the human GJA3 gene associated with congenital cataract (Q90114657) (← links)
• Computational Approaches to Prioritize Cancer Driver Missense Mutations (Q90419543) (← links)
• Tumor suppressor MCPH1 regulates gene expression profiles related to malignant conversion and chromosomal assembly (Q91951419) (← links)
• Extracting Complementary Insights from Molecular Phenotypes for Prioritization of Disease-Associated Mutations (Q92004075) (← links)
• Chloride intracellular channel protein 2 in cancer and non-cancer human tissues: relationship with tight junctions (Q92724753) (← links)
• Identification of pathogenic missense mutations using protein stability predictors (Q99863681) (← links)