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  1. Article: Progress in understanding Creutzfeldt-Jakob disease.

    Sellars, Robin J / Collie, Donald A / Will, Robert J

    AJNR. American journal of neuroradiology

    2002  Volume 23, Issue 7, Page(s) 1070–1072

    MeSH term(s) Brain/blood supply ; Brain/diagnostic imaging ; Creutzfeldt-Jakob Syndrome/diagnosis ; Disease Progression ; Humans ; Magnetic Resonance Imaging ; Radiography ; Sensitivity and Specificity ; Severity of Illness Index
    Language English
    Publishing date 2002-08
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 603808-6
    ISSN 1936-959X ; 0195-6108
    ISSN (online) 1936-959X
    ISSN 0195-6108
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1580: Show issues Location:
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  2. Article ; Online: Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

    Zarate, Yuri A / Smith-Hicks, Constance L / Greene, Carol / Abbott, Mary-Alice / Siu, Victoria M / Calhoun, Amy R U L / Pandya, Arti / Li, Chumei / Sellars, Elizabeth A / Kaylor, Julie / Bosanko, Katherine / Kalsner, Louisa / Basinger, Alice / Slavotinek, Anne M / Perry, Hazel / Saenz, Margarita / Szybowska, Marta / Wilson, Louise C / Kumar, Ajith /
    Brain, Caroline / Balasubramanian, Meena / Dubbs, Holly / Ortiz-Gonzalez, Xilma R / Zackai, Elaine / Stein, Quinn / Powell, Cynthia M / Schrier Vergano, Samantha / Britt, Allison / Sun, Angela / Smith, Wendy / Bebin, E Martina / Picker, Jonathan / Kirby, Amelia / Pinz, Hailey / Bombei, Hannah / Mahida, Sonal / Cohen, Julie S / Fatemi, Ali / Vernon, Hilary J / McClellan, Rebecca / Fleming, Leah R / Knyszek, Brittney / Steinraths, Michelle / Velasco Gonzalez, Cruz / Beck, Anita E / Golden-Grant, Katie L / Egense, Alena / Parikh, Aditi / Raimondi, Chantalle / Angle, Brad / Allen, William / Schott, Suzanna / Algrabli, Adi / Robin, Nathaniel H / Ray, Joseph W / Everman, David B / Gambello, Michael J / Chung, Wendy K

    American journal of medical genetics. Part A

    2018  Volume 176, Issue 4, Page(s) 925–935

    Abstract: SATB2-associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Previous studies have largely been restricted to ... ...

    Abstract SATB2-associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Previous studies have largely been restricted to case reports and small series without in-depth phenotypic characterization or genotype-phenotype correlations. Seventy two study participants were identified as part of the SAS clinical registry. Individuals with a molecularly confirmed diagnosis of SAS were referred after clinical diagnostic testing. In this series we present the most comprehensive phenotypic and genotypic characterization of SAS to date, including prevalence of each clinical feature, neurodevelopmental milestones, and when available, patient management. We confirm that the most distinctive features are neurodevelopmental delay with invariably severely limited speech, abnormalities of the palate (cleft or high-arched), dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies. This comprehensive clinical characterization will help clinicians with the diagnosis, counseling and management of SAS and help provide families with anticipatory guidance.
    MeSH term(s) Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Adolescent ; Adult ; Child ; Child, Preschool ; Facies ; Female ; Genetic Association Studies/methods ; Genetic Predisposition to Disease ; Genotype ; Humans ; Infant ; Inheritance Patterns ; Male ; Matrix Attachment Region Binding Proteins/genetics ; Phenotype ; Polymorphism, Single Nucleotide ; Syndrome ; Transcription Factors/genetics ; Young Adult
    Chemical Substances Matrix Attachment Region Binding Proteins ; SATB2 protein, human ; Transcription Factors
    Language English
    Publishing date 2018-02-13
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.38630
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

    Keppler-Noreuil, Kim M / Sapp, Julie C / Lindhurst, Marjorie J / Parker, Victoria E R / Blumhorst, Cathy / Darling, Thomas / Tosi, Laura L / Huson, Susan M / Whitehouse, Richard W / Jakkula, Eveliina / Grant, Ian / Balasubramanian, Meena / Chandler, Kate E / Fraser, Jamie L / Gucev, Zoran / Crow, Yanick J / Brennan, Leslie Manace / Clark, Robin / Sellars, Elizabeth A /
    Pena, Loren D M / Krishnamurty, Vidya / Shuen, Andrew / Braverman, Nancy / Cunningham, Michael L / Sutton, V Reid / Tasic, Velibor / Graham, John M / Geer, Joseph / Henderson, Alex / Semple, Robert K / Biesecker, Leslie G

    American journal of medical genetics. Part A

    2014  Volume 164A, Issue 7, Page(s) 1713–1733

    Abstract: Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital ... ...

    Abstract Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/skeletal and spinal (CLOVES) syndrome, macrodactyly, and the megalencephaly syndrome, Megalencephaly-Capillary malformation (MCAP) syndrome. We set out to refine the understanding of the clinical spectrum and natural history of these phenotypes, and now describe 35 patients with segmental overgrowth and somatic PIK3CA mutations. The phenotypic data show that these previously described disease entities have considerable overlap, and represent a spectrum. While this spectrum overlaps with Proteus syndrome (sporadic, mosaic, and progressive) it can be distinguished by the absence of cerebriform connective tissue nevi and a distinct natural history. Vascular malformations were found in 15/35 (43%) and epidermal nevi in 4/35 (11%) patients, lower than in Proteus syndrome. Unlike Proteus syndrome, 31/35 (89%) patients with PIK3CA mutations had congenital overgrowth, and in 35/35 patients this was asymmetric and disproportionate. Overgrowth was mild with little postnatal progression in most, while in others it was severe and progressive requiring multiple surgeries. Novel findings include: adipose dysregulation present in all patients, unilateral overgrowth that is predominantly left-sided, overgrowth that affects the lower extremities more than the upper extremities and progresses in a distal to proximal pattern, and in the most severely affected patients is associated with marked paucity of adipose tissue in unaffected areas. While the current data are consistent with some genotype-phenotype correlation, this cannot yet be confirmed.
    MeSH term(s) Adipose Tissue/pathology ; Adolescent ; Adult ; Age of Onset ; Child ; Child, Preschool ; Class I Phosphatidylinositol 3-Kinases ; Female ; Genetic Association Studies ; Genotype ; Humans ; Hyperplasia/diagnosis ; Hyperplasia/genetics ; Infant ; Infant, Newborn ; Lipoma/diagnosis ; Lipoma/genetics ; Male ; Middle Aged ; Musculoskeletal Abnormalities/diagnosis ; Musculoskeletal Abnormalities/genetics ; Mutation ; Nevus/diagnosis ; Nevus/genetics ; Organ Specificity/genetics ; Phenotype ; Phosphatidylinositol 3-Kinases/genetics ; Vascular Malformations/diagnosis ; Vascular Malformations/genetics ; Young Adult
    Chemical Substances Phosphatidylinositol 3-Kinases (EC 2.7.1.-) ; Class I Phosphatidylinositol 3-Kinases (EC 2.7.1.137) ; PIK3CA protein, human (EC 2.7.1.137)
    Language English
    Publishing date 2014-04-29
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.36552
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1376/A: Show issues Location:
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  4. Article: Notch activation is an early and critical event during T-Cell leukemogenesis in Ikaros-deficient mice.

    Dumortier, Alexis / Jeannet, Robin / Kirstetter, Peggy / Kleinmann, Eva / Sellars, MacLean / dos Santos, Nuno R / Thibault, Christelle / Barths, Jochen / Ghysdael, Jacques / Punt, Jennifer A / Kastner, Philippe / Chan, Susan

    Molecular and cellular biology

    2006  Volume 26, Issue 1, Page(s) 209–220

    Abstract: The Ikaros transcription factor is both a key regulator of lymphocyte differentiation and a tumor suppressor in T lymphocytes. Mice carrying a hypomorphic mutation (Ik(L/L)) in the Ikaros gene all develop thymic lymphomas. Ik(L/L) tumors always exhibit ... ...

    Abstract The Ikaros transcription factor is both a key regulator of lymphocyte differentiation and a tumor suppressor in T lymphocytes. Mice carrying a hypomorphic mutation (Ik(L/L)) in the Ikaros gene all develop thymic lymphomas. Ik(L/L) tumors always exhibit strong activation of the Notch pathway, which is required for tumor cell proliferation in vitro. Notch activation occurs early in tumorigenesis and may precede transformation, as ectopic expression of the Notch targets Hes-1 and Deltex-1 is detected in thymocytes from young Ik(L/L) mice with no overt signs of transformation. Notch activation is further amplified by secondary mutations that lead to C-terminal truncations of Notch 1. Strikingly, restoration of Ikaros activity in tumor cells leads to a rapid and specific downregulation of Notch target gene expression and proliferation arrest. Furthermore, Ikaros binds to the Notch-responsive element in the Hes-1 promoter and represses Notch-dependent transcription from this promoter. Thus, Ikaros-mediated repression of Notch target gene expression may play a critical role in defining the tumor suppressor function of this factor.
    MeSH term(s) Amino Acid Sequence ; Animals ; Basic Helix-Loop-Helix Transcription Factors/genetics ; Cell Proliferation ; Homeodomain Proteins/genetics ; Ikaros Transcription Factor/deficiency ; Ikaros Transcription Factor/genetics ; Lymphoma, T-Cell/genetics ; Mice ; Molecular Sequence Data ; Mutation ; Promoter Regions, Genetic ; Receptor, Notch1/genetics ; Receptor, Notch1/metabolism ; Response Elements ; Signal Transduction ; Thymus Gland/metabolism ; Thymus Gland/pathology ; Transcription Factor HES-1
    Chemical Substances Basic Helix-Loop-Helix Transcription Factors ; Hes1 protein, mouse ; Homeodomain Proteins ; Receptor, Notch1 ; Transcription Factor HES-1 ; Ikaros Transcription Factor (148971-36-2)
    Language English
    Publishing date 2006-01
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 779397-2
    ISSN 1098-5549 ; 0270-7306
    ISSN (online) 1098-5549
    ISSN 0270-7306
    DOI 10.1128/MCB.26.1.209-220.2006
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    Zs.A 1666: Show issues Location:
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