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メディカル備忘録

現在鋭意研究中のMDが、臨床を忘れないための備忘録ページ。

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ネイゲ

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
Meta-analysis identifies six new susceptibility loci for atrial fibrillation
A genome-wide association study identifies susceptibility loci for Wilms tumor
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1
Parallel domestication of the Shattering1 genes in cereals
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
Detectable clonal mosaicism and its relationship to aging and cancer
Detectable clonal mosaicism from birth to old age and its relationship to cancer
Integrated analysis of somatic mutations and focal copy-number changes identifies key genes and pathways in hepatocellular carcinoma
Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo
Exome sequencing of liver fluke–associated cholangiocarcinoma

AJHG

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome
Scan-Statistic Approach Identifies Clusters of Rare Disease Variants in LRP2, a Gene Linked and Associated with Autism Spectrum Disorders, in Three Datasets
Duplication of GTF2I Results in Separation Anxiety in Mice and Humans
Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity




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