(Q24298949)

GOA release 2020-03-11

eye development

1 reference

GOA release 2020-03-11

author

Veronica van Heyningen

29

object named as

Veronica van Heyningen

Veronica

van Heyningen

1 reference

19 October 2023

34

Chris P Ponting

Chris P

Ponting

1 reference

19 October 2023

Mira Kharbanda

23

Mira

Kharbanda

1 reference

19 October 2023

Claudia Gonzaga-Jauregui

object named as

Claudia Gonzaga-Jauregui

18

Claudia

Gonzaga-Jauregui

1 reference

19 October 2023

Martin S Taylor

30

Martin S

Taylor

1 reference

19 October 2023

David R FitzPatrick

37

David R

FitzPatrick

1 reference

19 October 2023

Dinesh C Soares

22

Dinesh C

Soares

1 reference

19 October 2023

Stefan Johansson

3

Stefan

Johansson

1 reference

19 October 2023

Carl A Anderson

15

Carl A

Anderson

1 reference

19 October 2023

35

James R Lupski

James R

Lupski

1 reference

19 October 2023

28

Richard A Gibbs

Richard A

Gibbs

1 reference

ORCID Public Data File 2021

19 October 2023

1 reference

20

Donna M Muzny

Donna M

Muzny

1 reference

19 October 2023

11

Denise Horn

Denise

Horn

1 reference

19 October 2023

19

Shalini Jhangiani

Shalini

Jhangiani

1 reference

19 October 2023

17

Ender Karaca

Ender

Karaca

1 reference

19 October 2023

33

Matthew E Hurles

Matthew E

Hurles

1 reference

19 October 2023

31

Tahsin Yakut

Tahsin

Yakut

1 reference

19 October 2023

2

Davut Pehlivan

Davut

Pehlivan

1 reference

19 October 2023

Joe Rainger

1

Joe

Rainger

1 reference

19 October 2023

Hemant Bengani

4

Hemant

Bengani

1 reference

19 October 2023

Luis Sanchez-Pulido

5

Luis

Sanchez-Pulido

1 reference

19 October 2023

Kathleen A Williamson

6

Kathleen A

Williamson

1 reference

19 October 2023

Mehmet Ture

7

Mehmet

Ture

1 reference

19 October 2023

Heather Barker

8

Heather

Barker

1 reference

19 October 2023

Karen Rosendahl

9

Karen

Rosendahl

1 reference

19 October 2023

Jürgen Spranger

10

Jürgen

Spranger

1 reference

19 October 2023

Alison Meynert

12

Alison

Meynert

1 reference

19 October 2023

James A B Floyd

13

James A B

Floyd

1 reference

19 October 2023

Trine Prescott

14

Trine

Prescott

1 reference

19 October 2023

Jacqueline K Rainger

16

Jacqueline K

Rainger

1 reference

19 October 2023

Anne Seawright

21

Anne

Seawright

1 reference

19 October 2023

Victoria Murday

24

Victoria

Murday

1 reference

19 October 2023

Andrew Finch

25

Andrew

Finch

1 reference

19 October 2023

Per M Knappskog

32

Per M

Knappskog

1 reference

19 October 2023

Gunnar Houge

36

Gunnar

Houge

1 reference

American Journal of Human Genetics

19 October 2023

language of work or name

English

0 references

publication date

5 June 2014

0 references

published in

0 references

volume

94

0 references

issue

6

0 references

page(s)

915-23

0 references

cites work

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Heterozygous mutations of OTX2 cause severe ocular malformations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

cDNA cloning of a human homologue of the Caenorhabditis elegans cell fate-determining gene mab-21: expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Requirement for Mab21l2 during development of murine retina and ventral body wall

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Crystal structure of the 2'-specific and double-stranded RNA-activated interferon-induced antiviral protein 2'-5'-oligoadenylate synthetase

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Spatial and temporal patterns of ERK signaling during mouse embryogenesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

The paradox of FGFR3 signaling in skeletal dysplasia: why chondrocytes growth arrest while other cells over proliferate.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

The cGAS-STING pathway for DNA sensing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Oscillatory links of Fgf signaling and Hes7 in the segmentation clock

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

From tall to short: the role of TGFβ signaling in growth and its disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Comprehensive classification of nucleotidyltransferase fold proteins: identification of novel families and their representatives in human

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Aberrant ubiquitin-mediated proteolysis of cell cycle regulatory proteins and oncogenesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Mutations in SOX2 cause anophthalmia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Activation of 2'-5' oligoadenylate synthetase by single-stranded and double-stranded RNA aptamers

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Mab21, the mouse homolog of a C. elegans cell-fate specification gene, participates in cerebellar, midbrain and eye development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

The mab-21 gene of Caenorhabditis elegans encodes a novel protein required for choice of alternate cell fates.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Regulation of the interferon-inducible 2'-5'-oligoadenylate synthetases by adenovirus VA(I) RNA.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

mab21l2 transgenics reveal novel expression patterns of mab21l1 and mab21l2, and conserved promoter regulation without sequence conservation

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Biochemical and functional characterization of germ line KRAS mutations

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Causes of visual impairment in children: a study of 3,210 cases.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

C. elegans SIN-3 and its associated HDAC corepressor complex act as mediators of male sensory ray development

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

SOX2 anophthalmia syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Visual impairment in children born at full term from 1972 through 1989 in Finland

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Zebrafish rx3 and mab21l2 are required during eye morphogenesis

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

Developmental expression of Mab21l2 during mouse embryogenesis

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121478

10.1016/J.AJHG.2014.05.005

29 November 2018

Identifiers

DOI

1 reference

release_s5qokwlksjeove7yufrlhmncsi

Fatcat ID

0 references

1 reference

1 reference

1 reference