Duplication 12p and PallisterKillian syndrome
... We have identified a proposita with a PKS phenotype who has two small de novo interstitial duplications of 12p which, along with a review of previously reported cases, has allowed us to define a minimum critical region that, when duplicated, generates many of the manifestations of PKS. This newly defin ...
... We have identified a proposita with a PKS phenotype who has two small de novo interstitial duplications of 12p which, along with a review of previously reported cases, has allowed us to define a minimum critical region that, when duplicated, generates many of the manifestations of PKS. This newly defin ...
Imposition of Crossover Interference through the
... As mentioned in the Introduction, a number of observations indicate that synapsis initiates at the sites of recombination events. But does synapsis initiate specifically at the sites of COs? To address this question, we determined whether Zip2 foci demonstrate interference, a property of COs, but no ...
... As mentioned in the Introduction, a number of observations indicate that synapsis initiates at the sites of recombination events. But does synapsis initiate specifically at the sites of COs? To address this question, we determined whether Zip2 foci demonstrate interference, a property of COs, but no ...
p53 in Hematologic Malignancies
... a cumbersome technique that can onlydetect gross alterations. An indirect detection method is the analysis of LOH, taking advantage of DNA p~lymorphisms.'~ The paradigm for LOH is that one p53 allele develops a point mutation; then, through one of several genetic mechanisms, including recombination ...
... a cumbersome technique that can onlydetect gross alterations. An indirect detection method is the analysis of LOH, taking advantage of DNA p~lymorphisms.'~ The paradigm for LOH is that one p53 allele develops a point mutation; then, through one of several genetic mechanisms, including recombination ...
The female-killing chromosome of the silkworm, Bombyx mori, was
... Bombyx mori is a female-heterogametic organism (female, ZW; male, ZZ) that appears to have a putative feminizing gene (Fem) on the W chromosome. The paternally transmitted mutant W chromosome, Df(pSa+pW+od)Fem, derived from the translocation-carrying W chromosome (pSa+pW+od), is inert as femaleness ...
... Bombyx mori is a female-heterogametic organism (female, ZW; male, ZZ) that appears to have a putative feminizing gene (Fem) on the W chromosome. The paternally transmitted mutant W chromosome, Df(pSa+pW+od)Fem, derived from the translocation-carrying W chromosome (pSa+pW+od), is inert as femaleness ...
Chromosomal Aberration of the 11q23 Locus in Acute Leukemia
... rarely.9 The majority of 11q23+/MLL+ AML cases have monocytoid differentiation features and are classified in the M4 and M5 leukemia French-American-British (FAB) subtypes.10 In adult ALL, the overall incidence of 11q23+/MLL+ is reported to be around 3% to 7%,11 but in pro-B-cell ALL, it accounts fo ...
... rarely.9 The majority of 11q23+/MLL+ AML cases have monocytoid differentiation features and are classified in the M4 and M5 leukemia French-American-British (FAB) subtypes.10 In adult ALL, the overall incidence of 11q23+/MLL+ is reported to be around 3% to 7%,11 but in pro-B-cell ALL, it accounts fo ...
Product description P018-G1 SHOX-v03 - MRC
... - Short stature and skeletal deformities due to SHOX defects are pseudoautosomal dominant disorders. Therefore, a heterozygous mutation of SHOX is expected to result in these phenotypes. - A recurrent 47.5 kb deletion downstream of SHOX has been described by Benito-Sanz et al. (2012b). This 47.5 kb ...
... - Short stature and skeletal deformities due to SHOX defects are pseudoautosomal dominant disorders. Therefore, a heterozygous mutation of SHOX is expected to result in these phenotypes. - A recurrent 47.5 kb deletion downstream of SHOX has been described by Benito-Sanz et al. (2012b). This 47.5 kb ...
Host Genetic Control of Incubation Periods of Creutzfeldt
... Animals. Inbred strains of B10 congenic B10.AKM/OIa mice were provided by Dr K. Moriwaki, National Institute of Genetics, Mishima, Japan and B10.A/SgSnSlc, B10.BR/SgSnSIc and B10.D2/nSnSlc mice were obtained from Shizuoka Laboratory Animal Center, Hamamatsu, Japan. B10.A(3R)/Jms, A.AL/Jms and A/JJms ...
... Animals. Inbred strains of B10 congenic B10.AKM/OIa mice were provided by Dr K. Moriwaki, National Institute of Genetics, Mishima, Japan and B10.A/SgSnSlc, B10.BR/SgSnSIc and B10.D2/nSnSlc mice were obtained from Shizuoka Laboratory Animal Center, Hamamatsu, Japan. B10.A(3R)/Jms, A.AL/Jms and A/JJms ...
Tapanes-Castillo A, Weaver EJ, Smith RP, Kamei Y, Caspary T, Hamilton-Nelson KL, Slifer SH, Martin ER, Bixby JL, Lemmon VP. Neurogenetics. 2012 Feb;11(1):53-71. A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice.
... Mouse SNP Genotyping Service at Harvard University. The genotypes of our 129S2 mice matched that of 129S1 mice at all 375 working SNPs except one (rs13481099), which appeared monomorphic between our 129S2 and C57BL/6J ...
... Mouse SNP Genotyping Service at Harvard University. The genotypes of our 129S2 mice matched that of 129S1 mice at all 375 working SNPs except one (rs13481099), which appeared monomorphic between our 129S2 and C57BL/6J ...
Mesenchymal Dysplasia: A Recessive Mutation
... rapidly expanding mouse genetic map, the structural genes for many mutations causing such syndromes are now being identified. Thus, each new mouse mutation that causes congenital malformations provides the potential of identifying the gene affected in comparable human conditions. In addition, mouse ...
... rapidly expanding mouse genetic map, the structural genes for many mutations causing such syndromes are now being identified. Thus, each new mouse mutation that causes congenital malformations provides the potential of identifying the gene affected in comparable human conditions. In addition, mouse ...
TRANSLOCATIONS INVOLVING T H E THIRD AND THE FOURTH
... Cytological changes produced by the translocations.. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Genetical consequences of the breakage of the third chromosome in the translocations.. .. Non-disjunction of the fourth chromosome in the translocations.. ..................... Behavi ...
... Cytological changes produced by the translocations.. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Genetical consequences of the breakage of the third chromosome in the translocations.. .. Non-disjunction of the fourth chromosome in the translocations.. ..................... Behavi ...
A rare anomaly of the foot presented as polydactyly Case Report
... the infant, biphalangeal polydactyly and nonmirror images of both feet suggest the possibility of a mutation of GLI3.[4] Surgical correction of preaxial polydactyly is generally more complex with poor long‑term results.[5] Complications include recurrent hallux varus, splaying of the first ray and a ...
... the infant, biphalangeal polydactyly and nonmirror images of both feet suggest the possibility of a mutation of GLI3.[4] Surgical correction of preaxial polydactyly is generally more complex with poor long‑term results.[5] Complications include recurrent hallux varus, splaying of the first ray and a ...
SALSA MLPA probemix P018-F1 SHOX - MRC
... reduced relative peak area of the amplification product of that probe. Deletions of a probe’s recognition sequence on the X-chromosome, outside the PAR regions, will lead to a complete absence of the corresponding probe amplification product in males, whereas female heterozygotes are recognisable by ...
... reduced relative peak area of the amplification product of that probe. Deletions of a probe’s recognition sequence on the X-chromosome, outside the PAR regions, will lead to a complete absence of the corresponding probe amplification product in males, whereas female heterozygotes are recognisable by ...
The pleiotropic structure of the genotype–phenotype
... Mutational pleiotropy tends to be smaller than gene plei‑ otropy (for examples, see REF. 25). nevertheless, one can argue that the pleiotropy of knockout genotypes gives an upper limit of mutational pleiotropy, as it is plausible that a complete loss of gene activity has more widespread effects than ...
... Mutational pleiotropy tends to be smaller than gene plei‑ otropy (for examples, see REF. 25). nevertheless, one can argue that the pleiotropy of knockout genotypes gives an upper limit of mutational pleiotropy, as it is plausible that a complete loss of gene activity has more widespread effects than ...
Product description P048-C1-0315 LMNA-MYOT - MRC
... The P048-C1 probemix contains probes for all 12 exons of the LMNA gene. Two probes are present for exon 1. This probemix furthermore contains probes for all exons of the ZMPSTE24, MYOT and CAV3 genes. Finally, 9 reference probes are included in this probemix, detecting several different autosomal ch ...
... The P048-C1 probemix contains probes for all 12 exons of the LMNA gene. Two probes are present for exon 1. This probemix furthermore contains probes for all exons of the ZMPSTE24, MYOT and CAV3 genes. Finally, 9 reference probes are included in this probemix, detecting several different autosomal ch ...
Neonatal diabetes mellitus: A model for personalized medicine
... autoantibody-negative autosomal dominantly inherited diabetes occurring at a younger age, usually with detectable preservation of b-cell function. Such patients can carry mutations in any of at least seven genes (OMIM 606391), although an uncertain percentage could result from an unknown cause. When ...
... autoantibody-negative autosomal dominantly inherited diabetes occurring at a younger age, usually with detectable preservation of b-cell function. Such patients can carry mutations in any of at least seven genes (OMIM 606391), although an uncertain percentage could result from an unknown cause. When ...
Review of the p53 Tumor Suppressor Gene and its Role in Gliomas
... genes that not only stimulate growth as proto-oncogenes do, but also act to constrain growth, as is the case with tumor suppressor genes. Cells therefore receive not only growth stimulatory signals (received by proto-oncogene proteins), but also growth-inhibitory signals (received by proteins speci ...
... genes that not only stimulate growth as proto-oncogenes do, but also act to constrain growth, as is the case with tumor suppressor genes. Cells therefore receive not only growth stimulatory signals (received by proto-oncogene proteins), but also growth-inhibitory signals (received by proteins speci ...
SVPaper050711
... frequencies of SVs in wild-derived and classical strains are due to differences in the amounts of accessible genome, and also to differences in our ability to detect SVs in the wild-derived strains. Using our chromosome 19 experimental analysis of SVs, we have estimated false negative rate across th ...
... frequencies of SVs in wild-derived and classical strains are due to differences in the amounts of accessible genome, and also to differences in our ability to detect SVs in the wild-derived strains. Using our chromosome 19 experimental analysis of SVs, we have estimated false negative rate across th ...
Gene Section MLL (myeloid/lymphoid or mixed lineage leukemia) Atlas of Genetics and Cytogenetics
... 3969 amino acids; 431 KDa; contains two DNA binding motifs: a AT hook homologous to high mobility group proteins HMGI-(Y) and HMGI(C) that binds to the minor groove of DNA, and zinc fingers, a DNA methyl transferase motif, a bromodomain, and segments of homology with trithorax, in particular in the ...
... 3969 amino acids; 431 KDa; contains two DNA binding motifs: a AT hook homologous to high mobility group proteins HMGI-(Y) and HMGI(C) that binds to the minor groove of DNA, and zinc fingers, a DNA methyl transferase motif, a bromodomain, and segments of homology with trithorax, in particular in the ...
protein 2 gene: study of a cohort of Israeli patients - MRC
... included on genetic basis, among them Angelman-like phenotype and familial X-linked metal retardation, and autism in males (reviewed by Naidu et al6). From the genetic standpoint, RTT is an X-linked dominant disorder caused by defects in the MECP2 gene on chromosome Xq28. MECP2 mutations were detect ...
... included on genetic basis, among them Angelman-like phenotype and familial X-linked metal retardation, and autism in males (reviewed by Naidu et al6). From the genetic standpoint, RTT is an X-linked dominant disorder caused by defects in the MECP2 gene on chromosome Xq28. MECP2 mutations were detect ...
Saethre–Chotzen syndrome
Saethre–Chotzen syndrome (SCS), also known as Acrocephalosyndactyly type III is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face. Individuals with SCS also have droopy eyelids (ptosis), widely spaced eyes (hypertelorism), and minor birth defects of the hands and feet (syndactyly). In addition, individuals with more severe cases of SCS may have mild to moderate mental retardation or learning disabilities. Depending on the level of severity, some individuals with SCS may require some form of medical or surgical intervention. Most individuals with SCS live fairly normal lives, regardless of whether medical treatment is needed or not.