「All reported non-canonical splice site variants in GLA cause aberrant splicing」の関連論文
-
Variation of body weight and seasonal reproduction in populations from different latitudes: genetic analyses using wild-derived medaka fish
-
Horizontally Transferred DNA in the Genome of the Fungus Pyricularia oryzae is Associated With Repressive Histone Modifications
-
Impairment of DYRK2 by DNMT1-mediated transcription augments carcinogenesis in human colorectal cancer
-
Automated screening procedure for the phenotypes of congenital fibrinogen disorders using novel parameters, |min1|c and Ac/|min1|c, obtained from clot waveform analysis using the Clauss method
-
Hamster PIWI proteins bind to piRNAs with stage-specific size variations during oocyte maturation (本文)
-
Population genetics of variants in infectious diseases and its application to the prediction of variant replacement
-
Sequencing of selected chromatin remodelling genes reveals increased burden of rare missense variants in ASD patients from the Japanese population
-
Characteristics of cortical spreading depression and c-Fos expression in transgenic mice having a mutation associated with familial hemiplegic migraine 2 (本文)
-
PML-RARαはMED1との結合を介して全トランス型レチノイン酸依存性の転写活性化を誘導する
-
Mechanism-Based Personalized Medicine for Cystic Fibrosis by Suppressing Pseudo Exon Inclusion
-
Novel SLC30A2 mutations in the pathogenesis of transient neonatal zinc deficiency
-
4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
-
MECHANISTIC ANALYSIS OF THE INITIATION OF RETROVIRAL GENE SILENCING BY REPROGRAMMING FACTORS
-
Pharmacogenomic study of anti-tuberculosis drugs-induced liver injury in Thais
-
Molecular Mechanism of Quinclorac Resistance in Multiple-Herbicide Resistant Echinochloa phyllopogon
-
Elucidation of cause and natural feature of cheating rhizobia, and host defense mechanism against them
-
Evolutionary genetics of socioemotional behavior in humans and other mammals
-
Genomic analysis of multiple myeloma using targeted capture sequencing in the Japanese cohort
-
Study on Accessory Gene Regulator(AGR)Variants in Staphylococcus aureus
-
Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease
-
Identification of calcium and integrin-binding protein 1 (CIB1) as a novel regulator of production of Amyloid β peptide using CRISPR/Cas9-based screening system
-
Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis
-
Identification and analysis of mechanisms that bypass the essentiality of Polo, a mitotic regulator
-
Association of two variable number of tandem repeats in the monoamine oxidase A gene promoter with suicide completion: The present study and meta-analysis
-
Chemical biology studies on nucleic acid recognition, modification, and secondary structures
-
Genetic basis of female-limited polymorphism of the damselfly Ischnura senegalensis
-
Novel Calcium-Binding Ablating Mutations Induce Constitutive RET Activity and Drive Tumorigenesis
-
Efficacious Combination Drug Treatment for Colorectal Cancer that Overcomes Resistance to KRAS G12C Inhibitors
-
Transposon delivery for CRISPR-based loss-of-function screen in mice identifies NF2 as a cooperating gene involved with the canonical WNT signaling molecular class of hepatocellular carcinoma
-
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy
-
SARS-CoV-2 Omicron BA.2.75 Variant May Be Much More Infective than Preexisting Variants Based on In Silico Model
-
Panning-based Virus Receptor Screening with Cellular cDNA Library
-
Forced expression of α2,3-sialyltransferase IV rescues impaired heart development in α2,6-sialyltransferase I-deficient medaka
-
An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome
-
Molecular analysis of drug resistance associating gene mutations in Mycobacterium tuberculosis clinical isolates in Nepal [an abstract of entire text]
-
Collective fusion activity determines neurotropism of an en bloc transmitted enveloped virus
-
A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism
-
Neural Isoforms of Agrin Are Generated by Reduced PTBP1−RNA Interaction Network Spanning the Neuron−Specific Splicing Regions in AGRN
-
Oncogenic FGFR1 mutation and amplification in common cellular origin in a composite tumor with neuroblastoma and pheochromocytoma
-
Evolutionary histories of breast cancer and related clones
-
Application of Advanced Genomic Technology to Improve Timber Productivity and Wood Quality of a Commercial Timber Species in Tropical Rainforest
-
Interactions of amyloid coaggregates with biomolecules and its relevance to neurodegeneration
-
Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
-
Study on the role of CtBP2 in pancreatic β cell
-
A cerebrospinal fluid microRNA analysis: Progressive supranuclear palsy
-
A proteome signature of umbilical cord serum associated with congenital diaphragmatic hernia
-
Amino acid catabolite markers for early prognostication of pneumonia in patients with COVID-19
-
Telomere-to-telomere genome assembly of an allotetraploid pernicious weed, Echinochloa phyllopogon
-
DNA methyltransferase 3B plays a protective role against hepatocarcinogenesis caused by chronic inflammation via maintaining mitochondrial homeostasis
-
Prenatal diagnosis of severe mitochondrial disease caused by nuclear gene defects: a study in Japan