Related references
Note: Only part of the references are listed.LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters
Marion Imbert-Bouteille et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2019)
Autozygome and high throughput confirmation of disease genes candidacy
Sateesh Maddirevula et al.
GENETICS IN MEDICINE (2019)
Quality and quantity control of gene expression by nonsense-mediated mRNA decay
Tatsuaki Kurosaki et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2019)
CDK9: a signaling hub for transcriptional control
Curtis W. Bacon et al.
TRANSCRIPTION-AUSTIN (2019)
Rn7SK small nuclear RNA is involved in neuronal differentiation
Zahra Bazi et al.
JOURNAL OF CELLULAR BIOCHEMISTRY (2018)
De novo variants in neurodevelopmental disorders with epilepsy
Henrike O. Heyne et al.
NATURE GENETICS (2018)
hnRNP R and its main interactor, the noncoding RNA 7SK, coregulate the axonal transcriptome of motoneurons
Michael Briese et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
Crosstalk between the RNA Methylation and Histone-Binding Activities of MePCE Regulates P-TEFb Activation on Chromatin
Samantha B. Shelton et al.
CELL REPORTS (2018)
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
Frederike L. Harms et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
P-TEFb: Finding its ways to release promoter-proximally paused RNA polymerase II
You Li et al.
TRANSCRIPTION-AUSTIN (2018)
Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome
Sumito Dateki et al.
HUMAN GENOME VARIATION (2018)
Expanding the genetic heterogeneity of intellectual disability
Shams Anazi et al.
HUMAN GENETICS (2017)
HEXIM1 and NEAT1 Long Non-coding RNA Form a Multi-subunit Complex that Regulates DNA-Mediated Innate Immune Response
Mehdi Morchikh et al.
MOLECULAR CELL (2017)
Prevalence and architecture of de novo mutations in developmental disorders
Jeremy F. McRae et al.
NATURE (2017)
Reconstitution of a functional 7SK snRNP
John E. Brogie et al.
NUCLEIC ACIDS RESEARCH (2017)
Cyclin-dependent kinase 9 is required for the survival of adult Drosophila melanogaster glia
Lynette C. Foo
SCIENTIFIC REPORTS (2017)
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
Miriam S. Reuter et al.
JAMA PSYCHIATRY (2017)
Human METTL16 is a N6-methyladenosine (m6A) methyltransferase that targets pre-mRNAs and various non-coding RNAs
Ahmed S. Warda et al.
EMBO REPORTS (2017)
The 7SK snRNP associates with the little elongation complex to promote snRNA gene expression
Sylvain Egloff et al.
EMBO JOURNAL (2017)
Compound Heterozygous Variants in the LARP7 Gene as a Cause of Alazami Syndrome in a Caucasian Female with Significant Failure to Thrive, Short Stature, and Developmental Disability
Tina T. Ling et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort
Ranad Shaheen et al.
GENETICS IN MEDICINE (2016)
Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features
Iris H. I. M. Hollink et al.
JOURNAL OF HUMAN GENETICS (2016)
Genetic studies in intellectual disability and related disorders
Lisenka E. L. M. Vissers et al.
NATURE REVIEWS GENETICS (2016)
Heptad-Specific Phosphorylation of RNA Polymerase II CTD
Roland Schueller et al.
MOLECULAR CELL (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
Stefan H. Lelieveld et al.
NATURE NEUROSCIENCE (2016)
Cracking the control of RNA polymerase II elongation by 7SK snRNP and P-TEFb
Alexandre J. C. Quaresma et al.
NUCLEIC ACIDS RESEARCH (2016)
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment
Maja Hempel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
Ender Karaca et al.
NEURON (2015)
Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
Anas M. Alazami et al.
CELL REPORTS (2015)
Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency
Brody Holohan et al.
BMC GENOMICS (2015)
Clinical Whole Exome Sequencing in Child Neurology Practice
Siddharth Srivastava et al.
ANNALS OF NEUROLOGY (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
Calpain 2 Activation of P-TEFb Drives Megakaryocyte Morphogenesis and Is Disrupted by Leukemogenic GATA1 Mutation
Kamaleldin E. Elagib et al.
DEVELOPMENTAL CELL (2013)
RNA elements directing in vivo assembly of the 7SK/MePCE/Larp7 transcriptional regulatory snRNP
Lisa Muniz et al.
NUCLEIC ACIDS RESEARCH (2013)
CTIP2 is a negative regulator of P-TEFb
Thomas Cherrier et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Human RNA Methyltransferase BCDIN3D Regulates MicroRNA Processing
Blerta Xhemalce et al.
CELL (2012)
Loss of Function Mutation in LARP7, Chaperone of 7SK ncRNA, Causes a Syndrome of Facial Dysmorphism, Intellectual Disability, and Primordial Dwarfism
Anas M. Alazami et al.
HUMAN MUTATION (2012)
Id proteins synchronize sternness and anchorage to the niche of neural stern cells
Francesco Niola et al.
NATURE CELL BIOLOGY (2012)
Promoter-proximal pausing of RNA polymerase II: emerging roles in metazoans
Karen Adelman et al.
NATURE REVIEWS GENETICS (2012)
Identification of differentially expressed non-coding RNAs in embryonic stem cell neural differentiation
Konstantinia Skreka et al.
NUCLEIC ACIDS RESEARCH (2012)
The Bin3 RNA methyltransferase targets 7SK RNA to control transcription and translation
Michael S. Cosgrove et al.
WILEY INTERDISCIPLINARY REVIEWS-RNA (2012)
A Network of Broadly Expressed HLH Genes Regulates Tissue-Specific Cell Fates
Abhishek Bhattacharya et al.
CELL (2011)
The Bin3 RNA methyltransferase is required for repression of caudal translation in the Drosophila embryo
Navjot Singh et al.
DEVELOPMENTAL BIOLOGY (2011)
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
Hossein Najmabadi et al.
NATURE (2011)
A capping-independent function of MePCE in stabilizing 7SK snRNA and facilitating the assembly of 7SK snRNP
Yuhua Xue et al.
NUCLEIC ACIDS RESEARCH (2010)
P-TEFb stimulates transcription elongation and pre-mRNA splicing through multilateral mechanisms
Tina Lenasi et al.
RNA BIOLOGY (2010)
Id Proteins Facilitate Self-Renewal and Proliferation of Neural Stem Cells
Seunghwan Jung et al.
STEM CELLS AND DEVELOPMENT (2010)
Gene Expression Profiling of Human Neural Progenitor Cells Following the Serum-Induced Astrocyte Differentiation
Shinya Obayashi et al.
CELLULAR AND MOLECULAR NEUROBIOLOGY (2009)
7SK snRNP/P-TEFb couples transcription elongation with alternative splicing and is essential for vertebrate development
Matjaz Barboric et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
The structure of P-TEFb (CDK9/cyclin T1), its complex with flavopiridol and regulation by phosphorylation
Sonja Baumli et al.
EMBO JOURNAL (2008)
PP2B and PP1α cooperatively disrupt 7SK snRNP to release P-TEFb for transcription in response to Ca2+ signaling
Ruichuan Chen et al.
GENES & DEVELOPMENT (2008)
A la-related protein modulates 7SK snRNP integrity to suppress P-TEFb-dependent transcriptional elongation and tumorigenesis
Nanhai He et al.
MOLECULAR CELL (2008)
LARP7 is a stable component of the 7SK snRNP while P-TEFb, HEXIM1 and hnRNP A1 are reversibly associated
Brian J. Krueger et al.
NUCLEIC ACIDS RESEARCH (2008)
Id sustains Hes1 expression to inhibit precocious neurogenesis by releasing negative autoregulation of Hes1
Ge Bai et al.
DEVELOPMENTAL CELL (2007)
Systematic analysis of the protein interaction network for the human transcription machinery reveals the identity of the 7SK capping enzyme
Celia Jeronimo et al.
MOLECULAR CELL (2007)
The prognostic role of a gene signature from tumorigenic breast-cancer cells.
Rui Liu et al.
NEW ENGLAND JOURNAL OF MEDICINE (2007)
Modulation of a P-TEFb functional equilibrium for the global control of cell growth and differentiation
Nanhai He et al.
MOLECULAR AND CELLULAR BIOLOGY (2006)
Controlling the elongation phase of transcription with P-TEFb
B. Matija Peterlin et al.
MOLECULAR CELL (2006)
Inhibitors of differentiation (ID1, ID29 ID3 and ID4) genes are neuronal targets of MeCP2 that are elevated in Rett syndrome
Sailaja Peddada et al.
HUMAN MOLECULAR GENETICS (2006)
siRNA depletion of 7SK snRNA induces apoptosis but does not affect expression of the HIV-1 LTR or P-TEFb-dependent cellular genes
RE Haaland et al.
JOURNAL OF CELLULAR PHYSIOLOGY (2005)
TACI is mutant in common variable immunodeficiency and IgA deficiency
E Castigli et al.
NATURE GENETICS (2005)
Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans
U Salzer et al.
NATURE GENETICS (2005)
Binding of the 7SK snRNA turns the HEXIM1 protein into a P-TEFb (CDK9/cyclin T) inhibitor
AA Michels et al.
EMBO JOURNAL (2004)
Elongation by RNA polymerase II: the short and long of it
RJ Sim et al.
GENES & DEVELOPMENT (2004)
MAQ1 and 7SK RNA interact with CDK9/cyclin T complexes in a transcription-dependent manner
AA Michels et al.
MOLECULAR AND CELLULAR BIOLOGY (2003)
Modulation of basic helix-loop-helix transcription complex formation by Id proteins during neuronal differentiation
A Jögi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
7SK small nuclear RNA binds to and inhibits the activity of CDK9/cyclin T complexes
VT Nguyen et al.
NATURE (2001)
Different phosphorylated forms of RNA polymerase II and associated mRNA processing factors during transcription
P Komarnitsky et al.
GENES & DEVELOPMENT (2000)