Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B
- R. Wallace, Daowen Wang, J. Mulley
- BiologyNature Genetics
- 1 August 1998
It is shown that co-expression of the mutant ß1 subunit with a brain Na+-channel ß subunit in Xenopus laevis oocytes demonstrates that the mutation interferes with the ability of the subunit to modulate channel-gating kinetics consistent with a loss-of-function allele, developing the theme that idiopathic epilepsies are a family of channelopathies.
Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome
- R. Varon, C. Vissinga, A. Reis
- Biology, MedicineCell
- 1 May 1998
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
- A. Rauch, D. Wieczorek, T. Strom
- MedicineThe Lancet
- 10 November 2012
Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
Using genetic linkage analysis, it is found that biallelic loss-of-function mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients.
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
- S. Endele, G. Rosenberger, K. Kutsche
- BiologyNature Genetics
- 1 November 2010
It is suggested that disturbances in the neuronal electrophysiological balance during development result in variable neurological phenotypes depending on which NR2 subunit of NMDA receptors is affected.
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
- A. Rauch, J. Hoyer, U. Trautmann
- Medicine, BiologyAmerican Journal of Medical Genetics. Part A
- 1 October 2006
The diagnostic yield of conventional karyotyping, subtelomeric screening, molecular karyotypes, X‐inactivation studies, and dysmorphological evaluation with targeted laboratory testing in unselected patients referred for developmental delay or mental retardation is analyzed.
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
- L. Tsoi, S. Spain, R. Trembath
- Biology
- 2012
A meta-analysis of genome-wide association studies and independent data sets genotyped on the Immunochip identified 15 new susceptibility loci, increasing to 36 the number associated with psoriasis in European individuals, and identified five independent signals within previously known loci.
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1
- A. Strange, F. Capon, R. Trembath
- BiologyNature Genetics
- 17 October 2010
These findings implicate pathways that integrate epidermal barrier dysfunction with innate and adaptive immune dysregulation in psoriasis pathogenesis and report compelling evidence for an interaction between the HLA-C and ERAP1 loci.
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental…
- F. Pasutto, H. Sticht, A. Rauch
- Medicine, BiologyAmerican Journal of Human Genetics
- 1 March 2007
STRA6 mutations define a pleiotropic malformation syndrome representing the first human phenotype associated with mutations in a gene from the "STRA" group.
Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis
- U. Hüffmeier, S. Uebe, A. Reis
- Biology, MedicineNature Genetics
- 17 October 2010
Functional assays showed reduced binding of this TRAF3IP2 variant to TRAF6, suggesting altered modulation of immunoregulatory signals through altered TRAF interactions as a new and shared pathway for PsA and PsV.
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