Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability (Q30373367)

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English	Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability	scientific article

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scholarly article

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Europe PubMed Central

PMC publication ID

10 September 2017

Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability (English)

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Europe PubMed Central

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10 September 2017

Stanislas Lyonnet

20

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Stanislas Lyonnet

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18

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Robert M W Hofstra

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10 September 2017

Krishna Praneeth Kilambi

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Krishna Praneeth Kilambi

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Ashish Kapoor

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Vasilis Pachnis

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Vassilis Pachnis

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Jeanne Amiel

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Isabella Ceccherini

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Isabella Ceccherini

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author name string

Qian Jiang

1

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10 September 2017

Stacey Arnold

2

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10 September 2017

Tiffany Heanue

3

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10 September 2017

Krishna Praneeth Kilambi

4

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10 September 2017

Betty Doan

5

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10 September 2017

Albee Yun Ling

7

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10 September 2017

Maria X Sosa

8

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10 September 2017

Moltu Guy

9

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10 September 2017

Qingguang Jiang

10

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10 September 2017

Grzegorz Burzynski

11

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10 September 2017

Kristen West

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10 September 2017

Seneca Bessling

13

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10 September 2017

Paola Griseri

14

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10 September 2017

Raquel M Fernandez

16

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10 September 2017

Joke B G M Verheij

17

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10 September 2017

Salud Borrego

19

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10 September 2017

Jeffrey J Gray

22

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10 September 2017

Andrew S McCallion

24

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10 September 2017

Aravinda Chakravarti

25

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10 September 2017

language of work or name

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publication date

1 April 2015

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10 September 2017

American Journal of Human Genetics

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10 September 2017

96

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10 September 2017

4

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10 September 2017

581-596

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Europe PubMed Central

PMC publication ID

10 September 2017

Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385176

4 June 2018

Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections

1 reference

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Neuropilins lock secreted semaphorins onto plexins in a ternary signaling complex

1 reference

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Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer

1 reference

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Benchmarking and analysis of protein docking performance in Rosetta v3.2.

1 reference

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Mechanisms and molecules of neuronal wiring: a primer

1 reference

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Islet1 selectively promotes peripheral axon outgrowth in Rohon‐Beard primary sensory neurons

1 reference

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Presynaptic activity and CaMKII modulate retrograde semaphorin signaling and synaptic refinement.

1 reference

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4 June 2018

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability

1 reference

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Signals controlling neural crest contributions to the heart

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Semaphorin3A/neuropilin-1 signaling acts as a molecular switch regulating neural crest migration during cornea development

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Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

1 reference

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Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease

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Comparative protein structure modeling using MODELLER

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Validation and extension of an empirical Bayes method for SNP calling on Affymetrix microarrays

1 reference

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A second generation human haplotype map of over 3.1 million SNPs

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Semaphorin regulation of cellular morphology

1 reference

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p53 activation by knockdown technologies

1 reference

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Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studies

1 reference

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4 June 2018

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385176

4 June 2018

Statistical potential for assessment and prediction of protein structures

1 reference

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4 June 2018

Expression profiling the developing mammalian enteric nervous system identifies marker and candidate Hirschsprung disease genes

1 reference

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Semaphorin 3d guides laterality of retinal ganglion cell projections in zebrafish

1 reference

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Distinct roles for secreted semaphorin signaling in spinal motor axon guidance

1 reference

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Semaphorins command cells to move

1 reference

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4 June 2018

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

1 reference

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Haploview: analysis and visualization of LD and haplotype maps

1 reference

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The UCSC Table Browser data retrieval tool

1 reference

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A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

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Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb

1 reference

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PlexinA2 and semaphorin signaling during cardiac neural crest development

1 reference

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Targeted disruption of semaphorin 3C leads to persistent truncus arteriosus and aortic arch interruption

1 reference

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Signalling by the RET receptor tyrosine kinase and its role in the development of the mammalian enteric nervous system

1 reference

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Neuropilin-2 is a receptor for semaphorin IV: insight into the structural basis of receptor function and specificity

1 reference

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1 reference

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The semaphorin genes encode a family of transmembrane and secreted growth cone guidance molecules

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1 reference

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1 reference

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Alkaline phosphatase fusion proteins for molecular characterization and cloning of receptors and their ligands

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Semaphorin 3C regulates endothelial cell function by increasing integrin activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/25839327

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of different regions of the developing gut on the migration of enteric neural crest-derived cells: A role for Sema3A, but not Sema3F

1 reference

https://pubmed.ncbi.nlm.nih.gov/25839327

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2015.02.014

1 reference

Europe PubMed Central

PMC publication ID

10 September 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

10 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

10 September 2017

ResearchGate publication ID

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