Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure - Wikidata - wikimedia - TriplyDB

Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure

Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure

http://www.wikidata.org/entity/Q28287803

about

1p36 deletion syndrome: an update Molecular characterization of porcine MMP19 and MMP23B genes and its association with immune traits An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR.Regulation and involvement of matrix metalloproteinases in vascular diseases Narrowing the localization of the region breakpoint in most frequent Robertsonian translocations The first patient with a pure 1p36 microtriplication associated with severe clinical phenotypes Array-based comparative genomic hybridization in clinical diagnosis.Mmp23b promotes liver development and hepatocyte proliferation through the tumor necrosis factor pathway in zebrafish.Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis.Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay.Monosomy 1p36 uncovers a role for OX40 in survival of activated CD4+ T cells.Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14 Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.Neuropathology of brain and spinal malformations in a case of monosomy 1p36.Role of phosphoinositide-specific phospholipase C η2 in isolated and syndromic mental retardation.Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.Domain structure and function of matrix metalloprotease 23 (MMP23): role in potassium channel trafficking.Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies.Genetic advances in craniosynostosis.1p36.32 rearrangements and the role of PI-PLC η2 in nervous tumours.Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia

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P2860

Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure

http://www.wikidata.org/entity/Q28287803

description

2005 nî lūn-bûn

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2005 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2005 թվականի փետրվարին հրատարակված գիտական հոդված

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2005年の論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年论文

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name

Delineation of mechanisms and ...... tion of cranial suture closure

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Delineation of mechanisms and ...... tion of cranial suture closure

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Delineation of mechanisms and ...... tion of cranial suture closure

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Delineation of mechanisms and ...... tion of cranial suture closure

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Delineation of mechanisms and ...... tion of cranial suture closure

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Delineation of mechanisms and ...... tion of cranial suture closure

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Delineation of mechanisms and ...... tion of cranial suture closure

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Delineation of mechanisms and ...... tion of cranial suture closure

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SJ.EJHG.5201302

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European Journal of Human Genetics

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Delineation of mechanisms and ...... tion of cranial suture closure

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P2093

Aaron Theisen

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Blake C Ballif

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Caron D Glotzbach

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Catherine D Kashork

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David A Ansel

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David P C Rice

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Heidi A Heilstedt

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Kristen A Bailey

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Lisa G Shaffer

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Ritva Rice

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P2860

Cloning and characterization of human MMP-23, a new matrix metalloproteinase predominantly expressed in reproductive tissues and lacking conserved domains in other family members

Structural and functional characterization of human NAD kinase

Isolation and characterization of two novel metalloproteinase genes linked to the Cdc2L locus on human chromosome 1p36.3

Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders

Herpesvirus entry mediator, a member of the tumor necrosis factor receptor (TNFR) family, interacts with members of the TNFR-associated factor family and activates the transcription factors NF-kappaB and AP-1

The G protein subunit gene families

Negative regulation of BMP/Smad signaling by Tob in osteoblasts

Targeted disruption of the zetaPKC gene results in the impairment of the NF-kappaB pathway

HES and HERP families: multiple effectors of the Notch signaling pathway

Molecular physiology and pathology of the nucleotide sugar transporter family (SLC35)

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sj.ejhg.5201302

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