نتایج جستجو برای: dpp6

تعداد نتایج: 82  

Journal: :Science translational medicine 2010
Abdul Noor Annabel Whibley Christian R Marshall Peter J Gianakopoulos Amelie Piton Andrew R Carson Marija Orlic-Milacic Anath C Lionel Daisuke Sato Dalila Pinto Irene Drmic Carolyn Noakes Lili Senman Xiaoyun Zhang Rong Mo Julie Gauthier Jennifer Crosbie Alistair T Pagnamenta Jeffrey Munson Annette M Estes Andreas Fiebig Andre Franke Stefan Schreiber Alexandre F R Stewart Robert Roberts Ruth McPherson Stephen J Guter Edwin H Cook Geraldine Dawson Gerard D Schellenberg Agatino Battaglia Elena Maestrini Linda Jeng Terry Hutchison Evica Rajcan-Separovic Albert E Chudley Suzanne M E Lewis Xudong Liu Jeanette J Holden Bridget Fernandez Lonnie Zwaigenbaum Susan E Bryson Wendy Roberts Peter Szatmari Louise Gallagher Michael R Stratton Jozef Gecz Angela F Brady Charles E Schwartz Russell J Schachar Anthony P Monaco Guy A Rouleau Chi-Chung Hui F Lucy Raymond Stephen W Scherer John B Vincent

Autism is a common neurodevelopmental disorder with a complex mode of inheritance. It is one of the most highly heritable of the complex disorders, although the underlying genetic factors remain largely unknown. Here, we report mutations in the X-chromosome PTCHD1 (patched-related) gene in seven families with autism spectrum disorder (ASD) and in three families with intellectual disability. A 1...

Journal: :Journal of neurophysiology 2008
Jinhyun Kim Marcela S Nadal Ann M Clemens Matthew Baron Sung-Cherl Jung Yoshio Misumi Bernardo Rudy Dax A Hoffman

A-type K+ currents have unique kinetic and voltage-dependent properties that allow them to finely tune synaptic integration, action potential (AP) shape and firing patterns. In hippocampal CA1 pyramidal neurons, Kv4 channels make up the majority of the somatodendritic A-type current. Studies in heterologous expression systems have shown that Kv4 channels interact with transmembrane dipeptidyl-p...

Journal: :American journal of human genetics 2008
Christian R Marshall Abdul Noor John B Vincent Anath C Lionel Lars Feuk Jennifer Skaug Mary Shago Rainald Moessner Dalila Pinto Yan Ren Bhooma Thiruvahindrapduram Andreas Fiebig Stefan Schreiber Jan Friedman Cees E J Ketelaars Yvonne J Vos Can Ficicioglu Susan Kirkpatrick Rob Nicolson Leon Sloman Anne Summers Clare A Gibbons Ahmad Teebi David Chitayat Rosanna Weksberg Ann Thompson Cathy Vardy Vicki Crosbie Sandra Luscombe Rebecca Baatjes Lonnie Zwaigenbaum Wendy Roberts Bridget Fernandez Peter Szatmari Stephen W Scherer

Structural variation (copy number variation [CNV] including deletion and duplication, translocation, inversion) of chromosomes has been identified in some individuals with autism spectrum disorder (ASD), but the full etiologic role is unknown. We performed genome-wide assessment for structural abnormalities in 427 unrelated ASD cases via single-nucleotide polymorphism microarrays and karyotypin...

Journal: :Mechanisms of Development 2009
Woo Chi Valerie Reinke

Proper coordination of oogenesis, ovulation, and fertilization is essential for successful reproduction. In Caenorhabditis elegans, a strong loss-of-function mutation in dpl-1, which encodes a subunit of the E2F heterodimeric transcription factor EFL-1/DPL-1, causes severe defects during ovulation and fertilization. Here we demonstrate that the somatic gonad structure and sheath cell contractio...

2013
Pieter G. Postema

In this issue of PLOS Genetics, Nakano and colleagues from 13 centers in Japan report a candidate gene analysis in unrelated individuals with an unexplained cardiac arrest (UCA) [1]. Cardiac arrest is most often caused by a cardiac arrhythmia named ventricular fibrillation, which, if left untreated, will be lethal within minutes. Moreover, ventricular fibrillation is often the first expression ...

2012
Lydia Coulter Kwee Yutao Liu Carol Haynes Jason R. Gibson Annjanette Stone Steven A. Schichman Freya Kamel Lorene M. Nelson Barbara Topol Stephen K. Van Den Eeden Caroline M. Tanner Merit E. Cudkowicz Daniela L. Grasso Robert Lawson Sumitra Muralidhar Eugene Z. Oddone Silke Schmidt Michael A. Hauser

Following reports of an increased incidence of amyotrophic lateral sclerosis (ALS) in U.S. veterans, we have conducted a high-density genome-wide association study (GWAS) of ALS outcome and survival time in a sample of U.S. veterans. We tested ∼1.3 million single nucleotide polymorphisms (SNPs) for association with ALS outcome in 442 incident Caucasian veteran cases diagnosed with definite or p...

2014
Yanfa Sun Ranran Liu Guiping Zhao Maiqing Zheng Yan Sun Xiaoqiong Yu Peng Li Jie Wen

Polydactyly occurs in some chicken breeds, but the molecular mechanism remains incompletely understood. Combined genome-wide linkage analysis and association study (GWAS) for chicken polydactyly helps identify loci or candidate genes for the trait and potentially provides further mechanistic understanding of this phenotype in chickens and perhaps other species. The linkage analysis and GWAS for...

Journal: :Molecular biology of the cell 2000
E Grote G Vlacich M Pypaert P J Novick

The v-SNARE proteins Snc1p and Snc2p are required for fusion of secretory vesicles with the plasma membrane in yeast. Mutation of a methionine-based sorting signal in the cytoplasmic domain of either Sncp inhibits Sncp endocytosis and prevents recycling of Sncp to the Golgi after exocytosis. snc1-M43A mutant yeast have reduced growth and secretion rates and accumulate post-Golgi secretory vesic...

Journal: :Channels 2009
Céline Marionneau Richard D LeDuc Henry W Rohrs Andrew J Link R Reid Townsend Jeanne M Nerbonne

Somatodendritic A-type (I(A)) voltage-gated K(+) (K(V)) channels are key regulators of neuronal excitability, functioning to control action potential waveforms, repetitive firing and the responses to synaptic inputs. Rapidly activating and inactivating somatodendritic I(A) channels are encoded by K(V)4 alpha subunits and accumulating evidence suggests that these channels function as components ...

Journal: :Human molecular genetics 2009
Adriano Chiò Jennifer C Schymick Gabriella Restagno Sonja W Scholz Federica Lombardo Shiao-Lin Lai Gabriele Mora Hon-Chung Fung Angela Britton Sampath Arepalli J Raphael Gibbs Michael Nalls Stephen Berger Lydia Coulter Kwee Eugene Z Oddone Jinhui Ding Cynthia Crews Ian Rafferty Nicole Washecka Dena Hernandez Luigi Ferrucci Stefania Bandinelli Jack Guralnik Fabio Macciardi Federica Torri Sara Lupoli Stephen J Chanock Gilles Thomas David J Hunter Christian Gieger H Erich Wichmann Andrea Calvo Roberto Mutani Stefania Battistini Fabio Giannini Claudia Caponnetto Giovanni Luigi Mancardi Vincenzo La Bella Francesca Valentino Maria Rosaria Monsurrò Gioacchino Tedeschi Kalliopi Marinou Mario Sabatelli Amelia Conte Jessica Mandrioli Patrizia Sola Fabrizio Salvi Ilaria Bartolomei Gabriele Siciliano Cecilia Carlesi Richard W Orrell Kevin Talbot Zachary Simmons James Connor Erik P Pioro Travis Dunkley Dietrich A Stephan Dalia Kasperaviciute Elizabeth M Fisher Sibylle Jabonka Michael Sendtner Marcus Beck Lucie Bruijn Jeffrey Rothstein Silke Schmidt Andrew Singleton John Hardy Bryan J Traynor

The cause of sporadic amyotrophic lateral sclerosis (ALS) is largely unknown, but genetic factors are thought to play a significant role in determining susceptibility to motor neuron degeneration. To identify genetic variants altering risk of ALS, we undertook a two-stage genome-wide association study (GWAS): we followed our initial GWAS of 545 066 SNPs in 553 individuals with ALS and 2338 cont...

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