Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

scientific article

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/J.AJHG.2014.05.005
P8608Fatcat IDrelease_s5qokwlksjeove7yufrlhmncsi
P3181OpenCitations bibliographic resource ID947205
P932PMC publication ID4121478
P698PubMed publication ID24906020
P5875ResearchGate publication ID262932714

P50authorVeronica van HeyningenQ7922481
Chris PontingQ5107785
James R. LupskiQ6141679
David FitzPatrickQ41066804
Mira KharbandaQ52671278
Davut PehlivanQ55692919
Matthew HurlesQ56084738
Denise HornQ56955997
Carl A AndersonQ64477501
Richard A GibbsQ64856497
Shalini JhangianiQ90476259
Ender KaracaQ115165715
Tahsin YakutQ125311603
Claudia Gonzaga-JaureguiQ30502548
Martin S. TaylorQ30503724
Stefan JohanssonQ30512735
Donna MuznyQ32652849
Klaudia WalterQ37371637
Dinesh C. SoaresQ37375711
P2093author name stringGunnar Houge
Luis Sanchez-Pulido
Alison Meynert
Andrew Finch
Anne Seawright
Heather Barker
Hemant Bengani
Jacqueline K Rainger
James A B Floyd
Joe Rainger
Jürgen Spranger
Karen Rosendahl
Kathleen A Williamson
Mehmet Ture
Per M Knappskog
Trine Prescott
Victoria Murday
P2860cites workMutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationQ24295098
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 repeatQ24314231
Heterozygous mutations of OTX2 cause severe ocular malformationsQ24530768
From tall to short: the role of TGFβ signaling in growth and its disordersQ38026013
Oscillatory links of Fgf signaling and Hes7 in the segmentation clockQ38087056
The paradox of FGFR3 signaling in skeletal dysplasia: why chondrocytes growth arrest while other cells over proliferate.Q38167936
Activation of 2'-5' oligoadenylate synthetase by single-stranded and double-stranded RNA aptamersQ41062084
Biochemical and functional characterization of germ line KRAS mutationsQ42910760
mab21l2 transgenics reveal novel expression patterns of mab21l1 and mab21l2, and conserved promoter regulation without sequence conservationQ43890453
Zebrafish rx3 and mab21l2 are required during eye morphogenesisQ44926511
Visual impairment in children born at full term from 1972 through 1989 in FinlandQ45175662
C. elegans SIN-3 and its associated HDAC corepressor complex act as mediators of male sensory ray developmentQ47069028
The mab-21 gene of Caenorhabditis elegans encodes a novel protein required for choice of alternate cell fates.Q47069111
Regulation of the interferon-inducible 2'-5'-oligoadenylate synthetases by adenovirus VA(I) RNA.Q47607870
Developmental expression of Mab21l2 during mouse embryogenesisQ47927041
Mab21, the mouse homolog of a C. elegans cell-fate specification gene, participates in cerebellar, midbrain and eye developmentQ47959796
Causes of visual impairment in children: a study of 3,210 cases.Q51742169
SOX2 anophthalmia syndrome.Q52053221
Crystal structure of the 2'-specific and double-stranded RNA-activated interferon-induced antiviral protein 2'-5'-oligoadenylate synthetaseQ27642623
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defectsQ28240060
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndromeQ28279355
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defectsQ28306581
Requirement for Mab21l2 during development of murine retina and ventral body wallQ28585119
Spatial and temporal patterns of ERK signaling during mouse embryogenesisQ28594004
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.Q30666704
Mutations in SOX2 cause anophthalmiaQ34180637
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndromeQ34326370
Comprehensive classification of nucleotidyltransferase fold proteins: identification of novel families and their representatives in humanQ35008132
Aberrant ubiquitin-mediated proteolysis of cell cycle regulatory proteins and oncogenesisQ35094511
Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndromeQ35879519
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetryQ36358455
ALDH1A3 mutations cause recessive anophthalmia and microphthalmiaQ36595128
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencingQ36597189
The cGAS-STING pathway for DNA sensingQ37196072
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic herniaQ37217014
Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformationsQ37340867
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single centerQ37483886
P433issue6
P407language of work or nameEnglishQ1860
P921main subjecteye developmentQ5422650
Mab-21 like 2Q21118960
P304page(s)915-23
P577publication date2014-06-05
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleMonoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations
P478volume94

Reverse relations

cites work (P2860)
Q41066748A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma
Q50518606Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.
Q92380896CUGC for syndromic microphthalmia including next-generation sequencing-based approaches
Q98184322Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma
Q38517281Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma
Q40546645DIVAS: a centralized genetic variant repository representing 150,000 individuals from multiple disease cohorts
Q30403401De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay
Q83232103Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion
Q38721906Developmental dysplasia of the hip: usefulness of next generation genomic tools for characterizing the underlying genes - a mini review
Q37394425EIF2AK4 mutation as "second hit" in hereditary pulmonary arterial hypertension
Q64039410Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease
Q58095195Generation and characterization of Pathogenic Mab21l2(R51C) mouse model
Q34308989Genes and signaling networks regulated during zebrafish optic vesicle morphogenesis
Q39023010Genetic Advances in Microphthalmia
Q58095416Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia
Q89595747Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes
Q92993938Genome sequencing and implications for rare disorders
Q61855138Insights into genetics, human biology and disease gleaned from family based genomic studies
Q64041297Insights into genetics, human biology and disease gleaned from family based genomic studies
Q35889147Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts
Q63681386MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)
Q34516932Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy
Q52560217Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract.
Q35125578Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts
Q28118377Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization
Q33846693Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family
Q55311361Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion.
Q93136762Paralog Studies Augment Gene Discovery: DDX and DHX Genes
Q64896387Phenotypic expansion illuminates multilocus pathogenic variation.
Q35763184Precision Medicine for Continuing Phenotype Expansion of Human Genetic Diseases
Q58590219Quantifying the contribution of recessive coding variation to developmental disorders
Q37342031Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
Q47863726Signaling and Gene Regulatory Networks in Mammalian Lens Development
Q90141136Sostdc1 is expressed in all major compartments of developing and adult mammalian eyes
Q41913422Structural and biochemical characterization of the cell fate determining nucleotidyltransferase fold protein MAB21L1.
Q27014740The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Q92967255The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
Q92642653The Molecular Basis of Human Anophthalmia and Microphthalmia
Q39383518The hyaloid vasculature facilitates basement membrane breakdown during choroid fissure closure in the zebrafish eye.
Q91630796Zebrafish mab21l2 mutants possess severe defects in optic cup morphogenesis, lens and cornea development

Search more.