Latest papers

Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

The human cathelicidin, LL-37, induces granzyme-mediated apoptosis in regulatory T cells.

[Mutation analysis and prenatal diagnosis of 2 cases with mucopolysaccharidosis type I].

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.

A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.

Epidermal expression of an Elovl4 transgene rescues neonatal lethality of homozygous Stargardt disease-3 mice.

Inherited hyper-homocysteinemia as a cause of nonbacterial thrombotic endocarditis.

Genetic polymorphism at codon 10 of the transforming growth factor-beta1 gene in patients with alcoholic liver cirrhosis. LID - 10.3350/kjhep.2011.17.1.37 [doi]

Association between single nucleotide polymorphisms in the cyclooxygenase-2, tumor necrosis factor-α, and vascular endothelial growth factor-A genes, and susceptibility to hepatocellular carcinoma.

The prognostic power of the NOD2 genotype for complicated Crohn's disease: a meta-analysis.

A fast, powerful method for detecting identity by descent.

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.

Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease

Transition to homozygosity does not appear to provide a clonal advantage to hematopoietic progenitors carrying mutations in TET2.

[An inherited coagulation factor VII deficiency pedigree caused by homozygous mutation of His348Gln].