CH # 13-3
... The effects of mutations on genes vary widely. Some have little or no effect; and some produce beneficial variations. Some negatively disrupt gene function. Whether a mutation is negative or beneficial depends on how its DNA changes relative to the organism’s situation. Mutations are often thought o ...
... The effects of mutations on genes vary widely. Some have little or no effect; and some produce beneficial variations. Some negatively disrupt gene function. Whether a mutation is negative or beneficial depends on how its DNA changes relative to the organism’s situation. Mutations are often thought o ...
Mutations
... The effects of mutations on genes vary widely. Some have little or no effect; and some produce beneficial variations. Some negatively disrupt gene function. Whether a mutation is negative or beneficial depends on how its DNA changes relative to the organism’s situation. Mutations are often thought o ...
... The effects of mutations on genes vary widely. Some have little or no effect; and some produce beneficial variations. Some negatively disrupt gene function. Whether a mutation is negative or beneficial depends on how its DNA changes relative to the organism’s situation. Mutations are often thought o ...
A quantitative link between face discrimination deficits and neuronal
... Available online xxxx Keywords: Face Autism ASD fMRI fMRI-RA Local correlation ...
... Available online xxxx Keywords: Face Autism ASD fMRI fMRI-RA Local correlation ...
Twinning and Embryonic Left-Right Asymmetry
... The geometrical invariance known as symmetry is a striking feature of developmental morphology during embryogenesis. The left-right axis of an animal's body plan is often thought of as being fundamentally different from the dorso-ventral and antero-posterior axes because of the symmetry which it exh ...
... The geometrical invariance known as symmetry is a striking feature of developmental morphology during embryogenesis. The left-right axis of an animal's body plan is often thought of as being fundamentally different from the dorso-ventral and antero-posterior axes because of the symmetry which it exh ...
Polygenic Disorders
... – Permit efficient food utilization, fat deposition and weight gain at occasional times of food abundance – Make the bearer able to survive periods of famine ...
... – Permit efficient food utilization, fat deposition and weight gain at occasional times of food abundance – Make the bearer able to survive periods of famine ...
Somatosensory cortex functional connectivity
... (IMEDCO) using a whole-head VectorView MEG system (Elekta-Neuromag), comprised of 306 sensors arranged in 102 triplets of two orthogonal planar gradiometers and one magnetometer. The signals were filtered between 0.1 and 200 Hz and sampled at 600 Hz. The position and orientation of the head with resp ...
... (IMEDCO) using a whole-head VectorView MEG system (Elekta-Neuromag), comprised of 306 sensors arranged in 102 triplets of two orthogonal planar gradiometers and one magnetometer. The signals were filtered between 0.1 and 200 Hz and sampled at 600 Hz. The position and orientation of the head with resp ...
The Genetic Basis of Lateralization
... 50% of children should be left-handed. Klar supported his theory by citing Rife (1940) where 6 out of 11 children in L x L families were left-handed. However, this high proportion is unusual (McManus & Bryden, 1992). In three new samples there were 94 children in L x L families, of whom 37.2% were l ...
... 50% of children should be left-handed. Klar supported his theory by citing Rife (1940) where 6 out of 11 children in L x L families were left-handed. However, this high proportion is unusual (McManus & Bryden, 1992). In three new samples there were 94 children in L x L families, of whom 37.2% were l ...
Reduced functional connectivity within and between `social` resting
... Martino’s meta-analysis (2009) are present in spatially distinct resting state networks, it is important to determine to what extent the connectivity at rest between these networks might also be affected. Between-network connectivity has been shown to reveal functional clustering of resting state ne ...
... Martino’s meta-analysis (2009) are present in spatially distinct resting state networks, it is important to determine to what extent the connectivity at rest between these networks might also be affected. Between-network connectivity has been shown to reveal functional clustering of resting state ne ...
Multilocus genetic models of handedness closely resemble
... task, which can correlate with overall motor proficiency and is only weakly associated with hand preference. What is clear is that no associations replicate across studies, with significance levels often being marginal after correction for multiple testing, and several studies find no significant as ...
... task, which can correlate with overall motor proficiency and is only weakly associated with hand preference. What is clear is that no associations replicate across studies, with significance levels often being marginal after correction for multiple testing, and several studies find no significant as ...
Reith RM, McKenna J, Wu H, Hashmi SS, Cho SH, Dash PK, Gambello MJ. Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex. Neurobiology of Disease. 2013 Mar;51:93-103.
... dysregulation of mTORC1 appears to be an important pathway leading to the autistic-phenotype. Since TSC is the prototypical mTORopathy, and about 25%–60% of children with TSC have ASD (Gillberg et al., 1994; Hunt and Dennis, 1987; Hunt and Shepherd, 1993; Smalley et al., 1992), an understanding of t ...
... dysregulation of mTORC1 appears to be an important pathway leading to the autistic-phenotype. Since TSC is the prototypical mTORopathy, and about 25%–60% of children with TSC have ASD (Gillberg et al., 1994; Hunt and Dennis, 1987; Hunt and Shepherd, 1993; Smalley et al., 1992), an understanding of t ...
Multilocus genetic models of handedness closely resemble
... (GWAS) that finds no significant associations with handedness and is consistent with a meta-analysis of GWASs. The GWAS had 99% power to detect a single locus using the conventional criterion of P < 5 × 10−8 for the single locus models of McManus and Annett. The strong conclusion is that handedness ...
... (GWAS) that finds no significant associations with handedness and is consistent with a meta-analysis of GWASs. The GWAS had 99% power to detect a single locus using the conventional criterion of P < 5 × 10−8 for the single locus models of McManus and Annett. The strong conclusion is that handedness ...
Genetic Interaction of BBS1 Mutations with
... necessary for pathogenesis. To date, four of the five known BBS loci have been implicated in this mode of oligogenic disease transmission. We present a comprehensive analysis of the spectrum, distribution, and involvement in nonMendelian trait transmission of mutant alleles in BBS1, the most common ...
... necessary for pathogenesis. To date, four of the five known BBS loci have been implicated in this mode of oligogenic disease transmission. We present a comprehensive analysis of the spectrum, distribution, and involvement in nonMendelian trait transmission of mutant alleles in BBS1, the most common ...
A new method to detect causative mutations in fibrinogen
... defects without affecting the total amount of fibrinogen to the complete or almost complete absence of fibrinogen in plasma in cases of afibrinogenaemia (3). Because most mutations are found in patients and/or families suffering from diseases of haemostasis, they allow us to study the relationship o ...
... defects without affecting the total amount of fibrinogen to the complete or almost complete absence of fibrinogen in plasma in cases of afibrinogenaemia (3). Because most mutations are found in patients and/or families suffering from diseases of haemostasis, they allow us to study the relationship o ...
Defining the biological bases of individual differences in musicality
... causal connections between particular genes and phenotypes of interest, in this case key features of musicality. Once relevant genes have been pinpointed, they can be used as entry points into the critical neurobiological pathways and can potentially complement other approaches to understanding musi ...
... causal connections between particular genes and phenotypes of interest, in this case key features of musicality. Once relevant genes have been pinpointed, they can be used as entry points into the critical neurobiological pathways and can potentially complement other approaches to understanding musi ...
Heritability - Wikipedia, the free encyclopedia
... In non-human populations it is often possible to collect information in a controlled way. For example, among farm animals it is easy to arrange for a bull to produce offspring from a large number of cows and to control environments. Such experimental control is impossible when gathering human data, ...
... In non-human populations it is often possible to collect information in a controlled way. For example, among farm animals it is easy to arrange for a bull to produce offspring from a large number of cows and to control environments. Such experimental control is impossible when gathering human data, ...
Slide 1
... Translocation occurs when part of one chromosome breaks off and attaches to another. ...
... Translocation occurs when part of one chromosome breaks off and attaches to another. ...
De novo mutations in familial adenomatous polyposis (FAP)
... By haplotyping we were able to determine the parental origin of the de novo APC germline mutation in 10 families. Six families were found with a maternal origin and four families with paternal origin (Figure 2). This distribution differs significantly from a paternal bias of 10 : 1 (P50.001), and is ...
... By haplotyping we were able to determine the parental origin of the de novo APC germline mutation in 10 families. Six families were found with a maternal origin and four families with paternal origin (Figure 2). This distribution differs significantly from a paternal bias of 10 : 1 (P50.001), and is ...
Reciprocal deletion and duplication at 2q23.1 indicates a
... spectrum disorders were analyzed, one individual presented with a 2q23.1 duplication that included the MBD5 gene.3 Before that report, three larger duplications in the 2q23 region were reported.4–6 Furthermore, the DECIPHER database has six duplications that involve MBD5 (DECIPHER ID 251237, 251363, ...
... spectrum disorders were analyzed, one individual presented with a 2q23.1 duplication that included the MBD5 gene.3 Before that report, three larger duplications in the 2q23 region were reported.4–6 Furthermore, the DECIPHER database has six duplications that involve MBD5 (DECIPHER ID 251237, 251363, ...
Powerpoint Slides - people.csail.mit.edu
... Both Macrocephaly and Microcephaly are linked to Autism* ...
... Both Macrocephaly and Microcephaly are linked to Autism* ...
AA - Virginia Institute for Psychiatric and Behavioral Genetics
... MZs share 100% genes, DZs (on avg) 50% Both twin types share 100% environment If rMZ > rDZ, then genetic factors are important If rDZ > ½ rMZ, then growing up in the same home is important If rMZ < 1, then non-shared environmental factors are important ...
... MZs share 100% genes, DZs (on avg) 50% Both twin types share 100% environment If rMZ > rDZ, then genetic factors are important If rDZ > ½ rMZ, then growing up in the same home is important If rMZ < 1, then non-shared environmental factors are important ...
An evaluation of the impact of the DSM-IV
... ASD. The second study analyzed ASD symptoms reported by parents of high ability youth. Results from the first study suggest that parents of children diagnosed with different previously used ASD diagnoses do not differentially report symptoms on two current ASD screening tools. Results from the secon ...
... ASD. The second study analyzed ASD symptoms reported by parents of high ability youth. Results from the first study suggest that parents of children diagnosed with different previously used ASD diagnoses do not differentially report symptoms on two current ASD screening tools. Results from the secon ...
Origins of Individual Differences in Theory of Mind: From
... and verbal ability; therefore, addressing this issue was beyond the scope of this cross-sectionalstudy. Instead, we adopted a behavioral genetic model-fitting approach to bring a fresh perspective to the question of how ToMand verbal ability are related. Specifically, because individual differences ...
... and verbal ability; therefore, addressing this issue was beyond the scope of this cross-sectionalstudy. Instead, we adopted a behavioral genetic model-fitting approach to bring a fresh perspective to the question of how ToMand verbal ability are related. Specifically, because individual differences ...
Neurodevelopmental, emotional, and behavioural
... the most comprehensive picture so far of the neuropsychiatric elements of DMD, by capturing with parent reporting a wide array of CNS characteristics including (1) intellectual difficulties, (2) neurodevelopmental disorders (ASD, ADHD), and (3) emotional behavioural problems such as internalizing an ...
... the most comprehensive picture so far of the neuropsychiatric elements of DMD, by capturing with parent reporting a wide array of CNS characteristics including (1) intellectual difficulties, (2) neurodevelopmental disorders (ASD, ADHD), and (3) emotional behavioural problems such as internalizing an ...
Genomic imprinting in the development and evolution of
... ‘autistic spectrum’ used for Kanner (infantile) autism, Asperger syndrome, Rett syndrome, and some other conditions (Table 1). I thus refer to ‘psychosis’ throughout this paper in a general sense as disordered cognition, emotionality, or both, commonly involving some component of positive symptoms s ...
... ‘autistic spectrum’ used for Kanner (infantile) autism, Asperger syndrome, Rett syndrome, and some other conditions (Table 1). I thus refer to ‘psychosis’ throughout this paper in a general sense as disordered cognition, emotionality, or both, commonly involving some component of positive symptoms s ...
Heritability of autism
The heritability of autism is the proportion of autism that can be explained by genetic variation; if the heritability of a condition is high, then the condition is considered to be primarily genetic. Autism has a strong genetic basis, although the genetics of autism is complex and it is unclear whether autism spectrum disorder (ASD) is explained more by multigene interactions or by rare mutations with major effects.Early studies of twins estimated the heritability of autism to be more than 90%--meaning that 90% of the differences between autistic and non-autistic individuals was due to genetics. This may be an overestimate: new twin data and models with structural genetic variation are needed. When only one identical twin is autistic, the other often has learning or social disabilities. For adult siblings, the risk of having one or more features of the broader autism phenotype might be as high as 30%, much higher than the risk in controls.Genetic linkage analysis has been inconclusive; many association analyses have had inadequate power. For each autistic individual, mutations in more than one gene may be implicated. Mutations in different sets of genes may be involved in different autistic individuals. There may be significant interactions among mutations in several genes, or between the environment and mutated genes. By identifying genetic markers inherited with autism in family studies, numerous candidate genes have been located, most of which encode proteins involved in neural development and function. However, for most of the candidate genes, the actual mutations that increase the risk for autism have not been identified. Typically, autism cannot be traced to a Mendelian (single-gene) mutation or to single chromosome abnormalities such as fragile X syndrome or 22q13 deletion syndrome.The large number of autistic individuals with unaffected family members may result from copy number variations (CNVs)—spontaneous alterations in the genetic material during meiosis that delete or duplicate genetic material. Sporadic (non-inherited) cases have been examined to identify candidate genetic loci involved in autism. A substantial fraction of autism may be highly heritable but not inherited: that is, the mutation that causes the autism is not present in the parental genome.Although the fraction of autism traceable to a genetic cause may grow to 30–40% as the resolution of array CGH improves, several results in this area have been described incautiously, possibly misleading the public into thinking that a large proportion of autism is caused by CNVs and is detectable via array CGH, or that detecting CNVs is tantamount to a genetic diagnosis. The Autism Genome Project database contains genetic linkage and CNV data that connect autism to genetic loci and suggest that every human chromosome may be involved. It may be that using autism-related subphenotypes instead of the diagnosis of autism per se may be more useful in identifying susceptible loci.