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We are analyzing https://link.springer.com/article/10.1007/s00439-011-1073-y.

Title:
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44 | Human Genetics
Description:
Microdeletions of 1q43q44 result in a recognizable clinical disorder characterized by moderate to severe intellectual disability (ID) with limited or no expressive speech, characteristic facial features, hand and foot anomalies, microcephaly (MIC), abnormalities (agenesis/hypogenesis) of the corpus callosum (ACC), and seizures (SZR). Critical regions have been proposed for some of the more prominent features of this disorder such as MIC and ACC, yet conflicting data have prevented precise determination of the causative genes. In this study, the largest of pure interstitial and terminal deletions of 1q43q44 to date, we characterized 22 individuals by high-resolution oligonucleotide microarray-based comparative genomic hybridization. We propose critical regions and candidate genes for the MIC, ACC, and SZR phenotypes associated with this microdeletion syndrome. Three cases with MIC had small overlapping or intragenic deletions of AKT3, an isoform of the protein kinase B family. The deletion of only AKT3 in two cases implicates haploinsufficiency of this gene in the MIC phenotype. Likewise, based on the smallest region of overlap among the affected individuals, we suggest a critical region for ACC that contains ZNF238, a transcriptional and chromatin regulator highly expressed in the developing and adult brain. Finally, we describe a critical region for the SZR phenotype which contains three genes (FAM36A, C1ORF199, and HNRNPU). Although ~90% of cases in this study and in the literature fit these proposed models, the existence of phenotypic variability suggests other mechanisms such as variable expressivity, incomplete penetrance, position effects, or multigenic factors could account for additional complexity in some cases.
Website Age:
28 years and 1 months (reg. 1997-05-29).

Matching Content Categories {📚}

  • Education
  • Careers
  • Mobile Technology & AI

Content Management System {📝}

What CMS is link.springer.com built with?

Custom-built

No common CMS systems were detected on Link.springer.com, and no known web development framework was identified.

Traffic Estimate {📈}

What is the average monthly size of link.springer.com audience?

🌠 Phenomenal Traffic: 5M - 10M visitors per month


Based on our best estimate, this website will receive around 5,000,019 visitors per month in the current month.
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How Does Link.springer.com Make Money? {💸}

We can't tell how the site generates income.

Many websites are intended to earn money, but some serve to share ideas or build connections. Websites exist for all kinds of purposes. This might be one of them. Link.springer.com might be plotting its profit, but the way they're doing it isn't detectable yet.

Keywords {🔍}

article, pubmed, google, scholar, cas, genet, usa, deletion, med, critical, corpus, callosum, syndrome, region, human, ballif, terminal, chromosome, university, genetics, genes, microcephaly, microdeletion, access, van, privacy, cookies, content, abnormalities, rosenfeld, traylor, shaffer, mic, hospital, pittsburgh, data, information, publish, research, search, regions, candidate, patients, michael, clinical, acc, cases, akt, kinase, phenotype,

Topics {✒️}

month download article/chapter severe intellectual disability c-terminal hydrophobic domain apparently x-linked trait propose critical regions north carolina-chapel hill serine/threonine kinase akt3 akt3/protein kinase bgamma james filiano epilepsy genetics huntington' full article pdf tracy stroud critical regions chromosome 1q42 deletion privacy choices/manage cookies corpus callosum agenesis/hypogenesis van duyvenvoorde ha marianne mcguire shelley williams related subjects magee-womens hospital distal 1q monosomy long-arm deletion 1qter microdeletion syndrome european economic area prevented precise determination mcdonald-mcginn dm regulatory phosphorylation sites martin-subero ji distal 4q trisomy box snorna cluster post-implantation lethality de vries bb author information authors critical region rowland-hill ca prader–willi syndrome conditions privacy policy 3q13 microdeletion predisposes paternally inherited microdeletion region 1q44 due article ballif phenotypic variability suggests animal models depict telomeric position effect dandy-walker complex multiple anomalies adds characteristic facial features normal brain size check access

Questions {❓}

  • Ottaviani A, Gilson E, Magdinier F (2008) Telomeric position effect: from the yeast paradigm to human pathologies?

Schema {🗺️}

WebPage:
      mainEntity:
         headline:High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44
         description:Microdeletions of 1q43q44 result in a recognizable clinical disorder characterized by moderate to severe intellectual disability (ID) with limited or no expressive speech, characteristic facial features, hand and foot anomalies, microcephaly (MIC), abnormalities (agenesis/hypogenesis) of the corpus callosum (ACC), and seizures (SZR). Critical regions have been proposed for some of the more prominent features of this disorder such as MIC and ACC, yet conflicting data have prevented precise determination of the causative genes. In this study, the largest of pure interstitial and terminal deletions of 1q43q44 to date, we characterized 22 individuals by high-resolution oligonucleotide microarray-based comparative genomic hybridization. We propose critical regions and candidate genes for the MIC, ACC, and SZR phenotypes associated with this microdeletion syndrome. Three cases with MIC had small overlapping or intragenic deletions of AKT3, an isoform of the protein kinase B family. The deletion of only AKT3 in two cases implicates haploinsufficiency of this gene in the MIC phenotype. Likewise, based on the smallest region of overlap among the affected individuals, we suggest a critical region for ACC that contains ZNF238, a transcriptional and chromatin regulator highly expressed in the developing and adult brain. Finally, we describe a critical region for the SZR phenotype which contains three genes (FAM36A, C1ORF199, and HNRNPU). Although ~90% of cases in this study and in the literature fit these proposed models, the existence of phenotypic variability suggests other mechanisms such as variable expressivity, incomplete penetrance, position effects, or multigenic factors could account for additional complexity in some cases.
         datePublished:2011-07-29T00:00:00Z
         dateModified:2011-07-29T00:00:00Z
         pageStart:145
         pageEnd:156
         sameAs:https://doi.org/10.1007/s00439-011-1073-y
         keywords:
            Bacterial Artificial Chromosome
            Critical Region
            Intellectual Disability
            Microcephaly
            Terminal Deletion
            Human Genetics
            Molecular Medicine
            Gene Function
            Metabolic Diseases
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               name:Urvashi Surti
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ScholarlyArticle:
      headline:High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44
      description:Microdeletions of 1q43q44 result in a recognizable clinical disorder characterized by moderate to severe intellectual disability (ID) with limited or no expressive speech, characteristic facial features, hand and foot anomalies, microcephaly (MIC), abnormalities (agenesis/hypogenesis) of the corpus callosum (ACC), and seizures (SZR). Critical regions have been proposed for some of the more prominent features of this disorder such as MIC and ACC, yet conflicting data have prevented precise determination of the causative genes. In this study, the largest of pure interstitial and terminal deletions of 1q43q44 to date, we characterized 22 individuals by high-resolution oligonucleotide microarray-based comparative genomic hybridization. We propose critical regions and candidate genes for the MIC, ACC, and SZR phenotypes associated with this microdeletion syndrome. Three cases with MIC had small overlapping or intragenic deletions of AKT3, an isoform of the protein kinase B family. The deletion of only AKT3 in two cases implicates haploinsufficiency of this gene in the MIC phenotype. Likewise, based on the smallest region of overlap among the affected individuals, we suggest a critical region for ACC that contains ZNF238, a transcriptional and chromatin regulator highly expressed in the developing and adult brain. Finally, we describe a critical region for the SZR phenotype which contains three genes (FAM36A, C1ORF199, and HNRNPU). Although ~90% of cases in this study and in the literature fit these proposed models, the existence of phenotypic variability suggests other mechanisms such as variable expressivity, incomplete penetrance, position effects, or multigenic factors could account for additional complexity in some cases.
      datePublished:2011-07-29T00:00:00Z
      dateModified:2011-07-29T00:00:00Z
      pageStart:145
      pageEnd:156
      sameAs:https://doi.org/10.1007/s00439-011-1073-y
      keywords:
         Bacterial Artificial Chromosome
         Critical Region
         Intellectual Disability
         Microcephaly
         Terminal Deletion
         Human Genetics
         Molecular Medicine
         Gene Function
         Metabolic Diseases
      image:
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      isPartOf:
         name:Human Genetics
         issn:
            1432-1203
            0340-6717
         volumeNumber:131
         type:
            Periodical
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      publisher:
         name:Springer-Verlag
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            url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
            type:ImageObject
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      author:
            name:Blake C. Ballif
            affiliation:
                  name:Signature Genomic Laboratories
                  address:
                     name:Signature Genomic Laboratories, Spokane, USA
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            name:Jill A. Rosenfeld
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                  name:Signature Genomic Laboratories
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                  name:Victoria General Hospital
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            name:Urvashi Surti
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            name:Raymond C. Tervo
            affiliation:
                  name:Gillette Children’s Specialty Healthcare
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                     name:Gillette Children’s Specialty Healthcare, St. Paul, USA
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Tracy Stroud
            affiliation:
                  name:University of Missouri
                  address:
                     name:University of Missouri, Columbia, USA
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            name:Michael Marble
            affiliation:
                  name:Louisiana State University Health Sciences Center/Children’s Hospital of New Orleans
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            name:Michael Netzloff
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            name:Kristen Hanson
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                  name:Michigan State University
                  address:
                     name:Michigan State University, East Lansing, USA
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            type:Person
            name:Arthur S. Aylsworth
            affiliation:
                  name:University of North Carolina-Chapel Hill
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      name:Human Genetics
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