Loomes et al., 2007 - Google Patents
Dll3 and Notch1 genetic interactions model axial segmental and craniofacial malformations of human birth defectsLoomes et al., 2007
View PDF- Document ID
- 5031106762897239948
- Author
- Loomes K
- Stevens S
- O'Brien M
- Gonzalez D
- Ryan M
- Segalov M
- Dormans N
- Mimoto M
- Gibson J
- Sewell W
- Schaffer A
- Nah H
- Rappaport E
- Pratt S
- Dunwoodie S
- Kusumi K
- Publication year
- Publication venue
- Developmental dynamics: an official publication of the American Association of Anatomists
External Links
Snippet
Mutations in the Notch1 receptor and delta‐like 3 (Dll3) ligand cause global disruptions in axial segmental patterning. Genetic interactions between members of the notch pathway have previously been shown to cause patterning defects not observed in single gene …
- 101700003144 DLL3 0 title abstract description 94
Classifications
-
- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N33/00—Investigating or analysing materials by specific methods not covered by the preceding groups
- G01N33/48—Investigating or analysing materials by specific methods not covered by the preceding groups biological material, e.g. blood, urine; Haemocytometers
- G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
- G01N33/5005—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells
- G01N33/5008—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics
- G01N33/5082—Supracellular entities, e.g. tissue, organisms
-
- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N33/00—Investigating or analysing materials by specific methods not covered by the preceding groups
- G01N33/48—Investigating or analysing materials by specific methods not covered by the preceding groups biological material, e.g. blood, urine; Haemocytometers
- G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
- G01N33/5005—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells
- G01N33/5008—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics
- G01N33/502—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics for testing non-proliferative effects
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Hybridisation probes
- C12Q1/6883—Hybridisation probes for diseases caused by alterations of genetic material
-
- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N33/00—Investigating or analysing materials by specific methods not covered by the preceding groups
- G01N33/48—Investigating or analysing materials by specific methods not covered by the preceding groups biological material, e.g. blood, urine; Haemocytometers
- G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
- G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/158—Expression markers
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
Similar Documents
Publication | Publication Date | Title |
---|---|---|
Loomes et al. | Dll3 and Notch1 genetic interactions model axial segmental and craniofacial malformations of human birth defects | |
Watanabe et al. | Fabp7 maps to a quantitative trait locus for a schizophrenia endophenotype | |
Pilliod et al. | New practical definitions for the diagnosis of autosomal recessive spastic ataxia of C harlevoix–S aguenay | |
Gusella et al. | Huntington's disease: seeing the pathogenic process through a genetic lens | |
McDonald-McGinn et al. | 22q11. 2 deletion syndrome | |
Zhang et al. | Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies | |
Khanna et al. | A review of genetic factors contributing to the etiopathogenesis of anorectal malformations | |
Heanue et al. | A novel zebrafish ret heterozygous model of Hirschsprung disease identifies a functional role for mapk10 as a modifier of enteric nervous system phenotype severity | |
Roessler et al. | Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly | |
Crespi | Genomic imprinting in the development and evolution of psychotic spectrum conditions | |
Green et al. | Tfap2a-dependent changes in mouse facial morphology result in clefting that can be ameliorated by a reduction in Fgf8 gene dosage | |
Zollino et al. | Unusual 4p16. 3 deletions suggest an additional chromosome region for the Wolf‐Hirschhorn syndrome–associated seizures disorder | |
Xiong et al. | Mutation in SSUH2 causes autosomal‐dominant dentin dysplasia type I | |
Kim et al. | Neuronal functions of FOXO/DAF-16 | |
Raveau et al. | Brain ventriculomegaly in Down syndrome mice is caused by Pcp4 dose-dependent cilia dysfunction | |
Yang et al. | Analysis of PRICKLE 1 in human cleft palate and mouse development demonstrates rare and common variants involved in human malformations | |
Delprato et al. | Systems genetic analysis of hippocampal neuroanatomy and spatial learning in mice | |
Zhang et al. | Autism spectrum disorders: autistic phenotypes and complicated mechanisms | |
Cristofoli et al. | Novel CASK mutations in cases with syndromic microcephaly | |
Liu et al. | Association of rare recurrent copy number variants with congenital heart defects based on next-generation sequencing data from family trios | |
Chen et al. | A reduction in Ptprq associated with specific features of the deafness phenotype of the miR‐96 mutant mouse diminuendo | |
Kang et al. | CYFIP2 p. Arg87Cys causes neurological defects and degradation of CYFIP2 | |
KR20140094511A (en) | Screening method | |
Du et al. | SH2B1 tunes hippocampal ERK signaling to influence fluid intelligence in humans and mice | |
Gaglani et al. | The genetic control of neocortex volume and covariation with neocortical gene expression in mice |