TP53 mutations occur in 15.7% of ALL and are associated with MYC
... In ALL, TP53 mutations have so far been considered to be rather infrequent13 (2% to 3%), although other studies suggest a much higher percentage of TP53 alterations (30% to 40%), if analyses do not merely focus on TP53 mutations and deletions but also include promoter hypermethylation.6 Generally, T ...
... In ALL, TP53 mutations have so far been considered to be rather infrequent13 (2% to 3%), although other studies suggest a much higher percentage of TP53 alterations (30% to 40%), if analyses do not merely focus on TP53 mutations and deletions but also include promoter hypermethylation.6 Generally, T ...
About Neurofibromatosis 1 - Children`s Tumor Foundation
... occur in families with no history of the disorder. Neurofibromatosis 1 (NF1) is the most common form of NF, affecting one in every 3,000 births. It is one of the most prevalent genetic disorders and the most common of the neurocutaneous disorders (conditions that affect both the skin and nervous s ...
... occur in families with no history of the disorder. Neurofibromatosis 1 (NF1) is the most common form of NF, affecting one in every 3,000 births. It is one of the most prevalent genetic disorders and the most common of the neurocutaneous disorders (conditions that affect both the skin and nervous s ...
Baker, B. S., Hoff, G., Kaufman, T. C., Wolfner, M. W., and Hazelrigg, T. (1991). A cytopgenetic analysis of the doublesex locus and its flanking regions. Genetics 127: 125-138.
... is heterozygous with a wild type dsx allele in a chromosomally female individual, and thus both the malespecific and female-specific dsx mRNAs are being produced (R. N. NAGOSHIand B. S. BAKER, in preparation), that individual develops as an intersex indistinguishable from those produced by null dsx ...
... is heterozygous with a wild type dsx allele in a chromosomally female individual, and thus both the malespecific and female-specific dsx mRNAs are being produced (R. N. NAGOSHIand B. S. BAKER, in preparation), that individual develops as an intersex indistinguishable from those produced by null dsx ...
Hereditary ataxias: overview
... Synonyms for autosomal dominant cerebellar ataxias (ADCAs) used prior to the identification of the molecular genetic basis of these disorders were Marie’s ataxia, inherited olivopontocerebellar atrophy, cerebello-olivary atrophy, or the more generic term, spinocerebellar degeneration. Clinical featu ...
... Synonyms for autosomal dominant cerebellar ataxias (ADCAs) used prior to the identification of the molecular genetic basis of these disorders were Marie’s ataxia, inherited olivopontocerebellar atrophy, cerebello-olivary atrophy, or the more generic term, spinocerebellar degeneration. Clinical featu ...
The amelogenin gene
... recombinant cDNA for mouse amelogenin and used it as a specific hybridization probe. They found that there is only one amelogenin gene in the mouse genome, which is located on the X-chromosome. The analysis established the locus of the amelogenin gene to the distal portion of the mouse X-chromosome. ...
... recombinant cDNA for mouse amelogenin and used it as a specific hybridization probe. They found that there is only one amelogenin gene in the mouse genome, which is located on the X-chromosome. The analysis established the locus of the amelogenin gene to the distal portion of the mouse X-chromosome. ...
Retrotransposon-Mediated Fgf5go-Utr Mutant Mice
... reported that approximately 10% of spontaneous mutations may be due to endogenous retroviral elements in laboratory mice [11, 14]. Recombination between the LTRs results in deletion of the internal region leaving only a single LTR, known as a solo LTR, in the host chromosome [3, 7]. The deletion of ...
... reported that approximately 10% of spontaneous mutations may be due to endogenous retroviral elements in laboratory mice [11, 14]. Recombination between the LTRs results in deletion of the internal region leaving only a single LTR, known as a solo LTR, in the host chromosome [3, 7]. The deletion of ...
Further manipulation by centric misdivision of the 1RS.1BL
... units present. Presence of multiple active units (centrogenes) in the centromeres of plant chromosomes was ...
... units present. Presence of multiple active units (centrogenes) in the centromeres of plant chromosomes was ...
Human Phenotypes
... (r). If a homozygous red-flowered plant is crossed with a white-flowered plant, what will be the genotype of the offspring? What will be the result of the next generation if the first offspring (F 1) are allowed to selfpollinate? 2. A blue-eyed man, both of whose parents are brown-eyed, marries a br ...
... (r). If a homozygous red-flowered plant is crossed with a white-flowered plant, what will be the genotype of the offspring? What will be the result of the next generation if the first offspring (F 1) are allowed to selfpollinate? 2. A blue-eyed man, both of whose parents are brown-eyed, marries a br ...
Albinism Project - shsbiogeneticdisorders
... contrasted to the sex chromosomes. We normally have two copies of these chromosomes and the genes on them – one inherited from our father, the other inherited from our mother. Neither of these gene copies is functional in people with albinism. However, albinism is a “recessive trait”, so even if onl ...
... contrasted to the sex chromosomes. We normally have two copies of these chromosomes and the genes on them – one inherited from our father, the other inherited from our mother. Neither of these gene copies is functional in people with albinism. However, albinism is a “recessive trait”, so even if onl ...
Transgenic Models to Study Disorders of Respiratory Control in
... Studies of breathing rhythmicity in mutant newborn mice have yielded new information about the genes that control rhythmogenesis. Pioneer studies demonstrated that loss of genes responsible for hindbrain segmentation during the early embryonic stages, such as Krox20, led to severe breathing instabil ...
... Studies of breathing rhythmicity in mutant newborn mice have yielded new information about the genes that control rhythmogenesis. Pioneer studies demonstrated that loss of genes responsible for hindbrain segmentation during the early embryonic stages, such as Krox20, led to severe breathing instabil ...
Mutations at the Darkener of apricot Locus Modulate Transcript
... flies: A gain in the survival rate of Doa trans-heterozygotes BIRCHLER 1989). Loading controls were performed by reescaping lethality by a factor of approximately 5-fold is and hybridizing the blots with a probe forrp49 (O'CONNELL obtained when either of two Doa alleles used in producing ROSBASH1984 ...
... flies: A gain in the survival rate of Doa trans-heterozygotes BIRCHLER 1989). Loading controls were performed by reescaping lethality by a factor of approximately 5-fold is and hybridizing the blots with a probe forrp49 (O'CONNELL obtained when either of two Doa alleles used in producing ROSBASH1984 ...
Affymetrix Software User Manuals
... Subject to the Affymetrix terms and conditions that govern your use of Affymetrix products, Affymetrix grants you a nonexclusive, non-transferable, non-sublicensable license to use this Affymetrix product only in accordance with the manual and written instructions provided by Affymetrix. You underst ...
... Subject to the Affymetrix terms and conditions that govern your use of Affymetrix products, Affymetrix grants you a nonexclusive, non-transferable, non-sublicensable license to use this Affymetrix product only in accordance with the manual and written instructions provided by Affymetrix. You underst ...
19. - 21. März 2014 in Essen - Deutsche Gesellschaft für
... Humangenetik (GfH) gemeinsam mit der Österreichischen Gesellschaft für Humangenetik (ÖGH) und der Schweizerischen Gesellschaft für Medizinische Genetik (SGMG) statt. Für mich, meine Mitarbeiterinnen und Mitarbeiter ist es eine besondere Ehre, Gastgeber dieser Jubiläumstagung sein zu dürfen. Die GfH ...
... Humangenetik (GfH) gemeinsam mit der Österreichischen Gesellschaft für Humangenetik (ÖGH) und der Schweizerischen Gesellschaft für Medizinische Genetik (SGMG) statt. Für mich, meine Mitarbeiterinnen und Mitarbeiter ist es eine besondere Ehre, Gastgeber dieser Jubiläumstagung sein zu dürfen. Die GfH ...
Concentrations of the atherogenic Lp(a) are elevated in FH
... chromosome 6q27,7–9 but several rare genetic conditions reportedly also affect Lp(a) levels (eg LPL deficiency,10 LCAT deficiency,11 abetalipoproteinemia).12 Other variables like age, sex, body weight or diet have been excluded as significant determinants of Lp(a) concentrations.13,14 Initial studie ...
... chromosome 6q27,7–9 but several rare genetic conditions reportedly also affect Lp(a) levels (eg LPL deficiency,10 LCAT deficiency,11 abetalipoproteinemia).12 Other variables like age, sex, body weight or diet have been excluded as significant determinants of Lp(a) concentrations.13,14 Initial studie ...
Evolutionary dynamics of CRISPR gene drives
... Though originally proposed over a decade ago (1), the chief technical difficulty of this approach—inducing easily programmable cutting at arbitrary target sites—has only recently been overcome by the discovery and development of the CRISPR/Cas9 genome editing system (23– 27). Briefly, Cas9 is an end ...
... Though originally proposed over a decade ago (1), the chief technical difficulty of this approach—inducing easily programmable cutting at arbitrary target sites—has only recently been overcome by the discovery and development of the CRISPR/Cas9 genome editing system (23– 27). Briefly, Cas9 is an end ...
Multiple Routes to Subfunctionalization and Gene Duplicate
... the same selection pressures that operate at a pair of duplicate loci. If a change in the environmental circumstances of the species is posited, it would be very unlikely that this shift would happen at precisely the same time as the fixation of a duplication by drift. The set of mutationally access ...
... the same selection pressures that operate at a pair of duplicate loci. If a change in the environmental circumstances of the species is posited, it would be very unlikely that this shift would happen at precisely the same time as the fixation of a duplication by drift. The set of mutationally access ...
1 - Krishikosh
... from the simple unicellular structures of bacteria and protozoa to the complex structures of trees and man. Even within an individual all of the cells do not look alike. A muscle cell is obviously different from a nerve cell which in turn is different from a blood cell, etc. Thus there is no such th ...
... from the simple unicellular structures of bacteria and protozoa to the complex structures of trees and man. Even within an individual all of the cells do not look alike. A muscle cell is obviously different from a nerve cell which in turn is different from a blood cell, etc. Thus there is no such th ...
Sporulation in BhciZZus subtilis 168. Control of
... Mapping ofpho mutants. Transducing lysates of phosphatase mutants were prepared from subcultures of the original isolates using phage PBS-I as described by Karamata & Gross (1970) and adapted by Coote (rgpb). The lysates were used to transduce auxotrophic strains, essentially as described by Coote ( ...
... Mapping ofpho mutants. Transducing lysates of phosphatase mutants were prepared from subcultures of the original isolates using phage PBS-I as described by Karamata & Gross (1970) and adapted by Coote (rgpb). The lysates were used to transduce auxotrophic strains, essentially as described by Coote ( ...
THE ROLE OF THE ret PROTO-ONCOGENE IN HUMAN DISEASE
... of ret activation in papillary carcinoma is reminiscent of the mode of several other tyrosine kinase receptors such as the EGF receptor, met and trk which were also activated by deletion of their ligand-binding domains. It is interesting to note that the frequency of rearrangement is different among ...
... of ret activation in papillary carcinoma is reminiscent of the mode of several other tyrosine kinase receptors such as the EGF receptor, met and trk which were also activated by deletion of their ligand-binding domains. It is interesting to note that the frequency of rearrangement is different among ...
Genetics of asthma and atopy Koppelman, Gerard
... patients had to meet three criteria: (1) symptoms consistent with asthma; (2) age ≤ 45 yr; (3) bronchial hyperresponsiveness to histamine (PC20 ≤ 32 mg/ml using the de Vries 30 seconds inhalation method).17 From 1990 onwards, these probands were restudied together with their spouses, a minimum of tw ...
... patients had to meet three criteria: (1) symptoms consistent with asthma; (2) age ≤ 45 yr; (3) bronchial hyperresponsiveness to histamine (PC20 ≤ 32 mg/ml using the de Vries 30 seconds inhalation method).17 From 1990 onwards, these probands were restudied together with their spouses, a minimum of tw ...
Richard Goldschmidt: hopeful monsters and other `heresies`
... was appointed to the Kaiser Wilhelm Institute for Biology in Berlin (FIG. 1). As Director of his own section of the Institute, Goldschmidt was free from teaching duties and could devote his full energy to research. Because the production of intersexes depended on the mating of different geographical ...
... was appointed to the Kaiser Wilhelm Institute for Biology in Berlin (FIG. 1). As Director of his own section of the Institute, Goldschmidt was free from teaching duties and could devote his full energy to research. Because the production of intersexes depended on the mating of different geographical ...
here - Glaucoma Genetics Lab
... members of this pedigree with POAG had a mean maximum IOP of 22.5 mm Hg, but six (43%) of these family members had never had an IOP recorded above 21 mm Hg. While members of this glaucoma pedigree together have average ages at diagnosis and average maximum IOPs typical for a diagnosis of POAG, some ...
... members of this pedigree with POAG had a mean maximum IOP of 22.5 mm Hg, but six (43%) of these family members had never had an IOP recorded above 21 mm Hg. While members of this glaucoma pedigree together have average ages at diagnosis and average maximum IOPs typical for a diagnosis of POAG, some ...
uncorrected page proofs
... Some newborn babies have an abnormal number of chromosomes in their cells. A baby may have an additional chromosome, giving a total of 47 instead of the normal 46. One additional chromosome or one missing chromosome typically has deleterious effects on development and, for most chromosomes, death oc ...
... Some newborn babies have an abnormal number of chromosomes in their cells. A baby may have an additional chromosome, giving a total of 47 instead of the normal 46. One additional chromosome or one missing chromosome typically has deleterious effects on development and, for most chromosomes, death oc ...
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.