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[PDF] Top 20 Mutations in Hnrnpa1 cause congenital heart defects

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Mutations in Hnrnpa1 cause congenital heart defects

Mutations in Hnrnpa1 cause congenital heart defects

... of Hnrnpa1 prevents the differentiation of mESCs into cardiomyocytes in ...vitro. Hnrnpa1 KO 1 and KO 2 mouse embryonic stem cells (mESCs) were generated by CRISPR/Cas9 deletion of different fragments of ... See full document

22

Congenital heart defects through 30 years

Congenital heart defects through 30 years

... be- cause of better genetic testing could have influenced the results, this may have more relevance for subtle genetic defects (such as microdeletions) than for major chromo- somal disorders (such as ... See full document

9

Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report

Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report

... the heart. ASD rep- resents 30 to 40% of congenital heart defects (CHDs) and is the third most common type of ...specific cause and often encountered in genetic syndromes such as Noonan ... See full document

7

Tropomyosin 1: multiple roles in the developing heart and in the formation of congenital heart defects

Tropomyosin 1: multiple roles in the developing heart and in the formation of congenital heart defects

... (AATAAA/GATAAA). Mutations of the polyadenylation signal can cause human disease [48], and speci fi cally, has been shown that this particular substitution reduces the ef fi ciency of the cleavage of the mRNA ... See full document

13

Genetic study in congenital heart defects

Genetic study in congenital heart defects

... two VSD patients in two different locations. They further did functional analysis in these cases which showed that the mutation affected the interaction between Irx4 and RXRα. These findings indicated that the mutated ... See full document

7

MEF2C regulates outflow tract alignment and transcriptional control of Tdgf1

MEF2C regulates outflow tract alignment and transcriptional control of Tdgf1

... Congenital heart defects are the most common birth defects in humans, and those that affect the proper alignment of the outflow tracts and septation of the ventricles are a highly significant ... See full document

6

Mutations in the netrin 1 gene cause congenital mirror movements

Mutations in the netrin 1 gene cause congenital mirror movements

... in individuals with CMM than in the ExAC population. The 6 con- served cysteines located in the NTR module of netrin-1 form disul- phide bonds that are probably very important for the structure of netrin-1 (35). The ... See full document

15

Sacral Meningocele with Conotruncal Heart Defects: A Possible Autosomal Recessive Trait

Sacral Meningocele with Conotruncal Heart Defects: A Possible Autosomal Recessive Trait

... result of a polygenic congenital heart defect with associated anomalies must also be considered be- cause in different series of autopsies of patients with congenital heart defects as ma[r] ... See full document

6

Sociodemographic Factors and Survival of Infants With Congenital Heart Defects

Sociodemographic Factors and Survival of Infants With Congenital Heart Defects

... Data for this study are from the North Carolina Birth Defects Monitoring Program (NCBDMP) and cover infants who were born during the 10-year period from 2004 through 2013. The NCBDMP is a statewide, ... See full document

13

Trends in Congenital Heart Defects in Infants With Down Syndrome

Trends in Congenital Heart Defects in Infants With Down Syndrome

... of congenital heart defect diagnoses within the cohort, we calculated risk ratios (RRs) with 95% confidence intervals (CIs) in log-binomial regression ...any congenital heart defect, and ... See full document

11

Congenital Heart Defects and Receipt of Special Education Services

Congenital Heart Defects and Receipt of Special Education Services

... birth defects in metropolitan Atlanta between 1982 and 2004, children born with isolated CHDs were 50% more likely to receive special education services in Atlanta during 1992 – ...birth defects included ... See full document

11

Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter

Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter

... multiple congenital anomalies (MCA), dysmorphism and developmental delay with/without mental retardation ...chromosomal defects leading to segmental duplication or deletion of the chromosome pair in an ... See full document

7

Deformation pattern and predictive value of right ventricular longitudinal strain in children with pulmonary arterial hypertension

Deformation pattern and predictive value of right ventricular longitudinal strain in children with pulmonary arterial hypertension

... chd, congenital heart defects; chd-PAH, pulmonary arterial hypertension associated with congenital heart defect; FAC, fractional area change; IVS, interventricular septum; LpsS, ... See full document

11

CONGENITAL PERICARDIAL DEFECTS WITH HERNIATION OF THE HEART INTO THE PLEURAL SPACE

CONGENITAL PERICARDIAL DEFECTS WITH HERNIATION OF THE HEART INTO THE PLEURAL SPACE

... A congenital defect in the pericardium with subsequent herniation of part or all of the heart into the pleural space is an un- usual anomaly, the precise incidence of which is not known.[r] ... See full document

5

Meckel-Gruber syndrome: an update on diagnosis, clinical management and research advances

Meckel-Gruber syndrome: an update on diagnosis, clinical management and research advances

... an “antenna” that receives and transduces chemosensory and mechanosensory signals (Figure 1G). Primary cilia are thought to be hubs of developmental signaling that regulate diverse pathways such as Wnt and Shh that have ... See full document

9

SHROOM3 DEFICIENT MICE SHOW CONGENITAL HEART DEFECTS

SHROOM3 DEFICIENT MICE SHOW CONGENITAL HEART DEFECTS

... The heart is a complex 3D structure and in order to understand the true geometry and arrangements of the cells and their actin networks, 3D reconstruction is ...early heart tube can manifest into gross ... See full document

121

Maternal residential proximity to chlorinated solvent emissions and birth defects in offspring: a case–control study

Maternal residential proximity to chlorinated solvent emissions and birth defects in offspring: a case–control study

... birth defects in offspring [11-14] with associations noted between these compounds and cleft lip with or without cleft palate [11], spina bifida [12], limb de- fects [13], and heart defects ...of ... See full document

16

Neurologic Status of Newborns With Congenital Heart Defects Before Open Heart Surgery

Neurologic Status of Newborns With Congenital Heart Defects Before Open Heart Surgery

... significant association (P , .05) between neurobe- havioral status (normal/abnormal) and cyanotic ver- sus acyanotic CHDs, in which newborns with acya- notic CHDs were more likely to be neurologically abnormal (78.6%) ... See full document

9

The Contribution of Gene Mutations to the Pathogenesisof Tetralogy of Fallot

The Contribution of Gene Mutations to the Pathogenesisof Tetralogy of Fallot

... of DNA binding proteins with zinc finger domains that bind to DNA. In the vertebrate, 6 GATA families have been identified (i.e. GATA1–GATA6), among which GATA4, GATA5 and GATA6 are primarily expressed in the fetal ... See full document

6

1 Effects of Involuntary Smoking and Vaping on the

1 Effects of Involuntary Smoking and Vaping on the

... passive smoking as well as paternal smoking increased the risk of congenital heart defects in 127.. offspring [58].[r] ... See full document

8

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