Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly.

scientific article published on 7 July 2017

Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/AJMG.A.38347
P698PubMed publication ID28686357

P50authorTamar HarelQ88470228
Amihood SingerQ125174025
P2093author name stringAvraham Shaag
Orly Elpeleg
Vardiella Meiner
Moshe Gomori
Nuphar Hacohen
P2860cites workThe PIDDosome, a protein complex implicated in activation of caspase-2 in response to genotoxic stressQ24336121
Analysis of protein-coding genetic variation in 60,706 humansQ26831376
A developmental and genetic classification for malformations of cortical development: update 2012Q26858999
Death Domain Assembly Mechanism Revealed by Crystal Structure of the Oligomeric PIDDosome Core ComplexQ27643768
Genetic Basis of Brain MalformationsQ28076998
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeatsQ28261729
RAIDD is a new 'death' adaptor moleculeQ28300622
Genetic mapping and exome sequencing identify variants associated with five novel diseasesQ28478905
The genetics of lissencephalyQ30826834
Malformations of Cortical Development: From Postnatal to Fetal ImagingQ31133197
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).Q34468937
Genomic variants and variations in malformations of cortical developmentQ34478370
Somatic mutations in cerebral cortical malformationsQ34763259
Caspase-2 deficiency enhances aging-related traits in miceQ35688389
Neuronal caspase 2 activity and function requires RAIDD, but not PIDDQ36002031
Impaired antioxidant defence and accumulation of oxidative stress in caspase-2-deficient miceQ36084482
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephalyQ37304298
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly VariantQ37396889
Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory ConsiderationsQ38739393
Neuroepithelial stem cell proliferation requires LIS1 for precise spindle orientation and symmetric division.Q43072719
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.Q49022984
Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?Q57386634
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosisQ57529928
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalitiesQ57839567
Preimplantation genetic diagnosis of DiGeorge syndromeQ58862063
P433issue9
P407language of work or nameEnglishQ1860
P921main subjectlissencephalyQ1544416
homozygosityQ114049690
P304page(s)2539-2544
P577publication date2017-07-07
P1433published inAmerican Journal of Medical GeneticsQ4744254
P1476titleHomozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly
P478volume173

Reverse relations

cites work (P2860)
Q104795021Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability
Q99207720International consensus recommendations on the diagnostic work-up for malformations of cortical development
Q58716570Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
Q92637637Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
Q90578938Role of a conserved glutamine in the function of voltage-gated Ca2+ channels revealed by a mutation in human CACNA1D
Q94948758Uncovering the PIDDosome and caspase-2 as regulators of organogenesis and cellular differentiation

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