Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism

Mechanisms and pathways of growth failure in primordial dwarfism

(2011) A. Klingseisen et al.   GENES & DEVELOPMENT

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

(2011) Louise S Bicknell et al.   NATURE GENETICS

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

(2011) Louise S Bicknell et al.   NATURE GENETICS

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

(2011) P. Edery et al.   SCIENCE

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

(2011) H. He et al.   SCIENCE

CtIP Mutations Cause Seckel and Jawad Syndromes

(2011) Per Qvist et al.   PLoS Genetics

The High Mobility Group A1 Gene: Transforming Inflammatory Signals into Cancer?

(2010) L. M.S. Resar   CANCER RESEARCH

Role of the cyclin-dependent kinase 9-related pathway in mammalian gene expression and human diseases

(2010) Gaetano Romano et al.   CELL CYCLE

Inactivation of Palb2 gene leads to mesoderm differentiation defect and early embryonic lethality in mice

(2010) Pia Rantakari et al.   HUMAN MOLECULAR GENETICS

Novel CENPJ mutation causes Seckel syndrome

(2010) M. S. Al-Dosari et al.   JOURNAL OF MEDICAL GENETICS

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

(2010) Ersan Kalay et al.   NATURE GENETICS

7SK small nuclear RNA directly affects HMGA1 function in transcription regulation

(2010) S. Eilebrecht et al.   NUCLEIC ACIDS RESEARCH

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

(2009) M. Willems et al.   JOURNAL OF MEDICAL GENETICS

Non-coding RNAs: regulators of disease

(2009) Ryan J Taft et al.   JOURNAL OF PATHOLOGY

The long and short of RNAs

(2009) Piero Carninci   NATURE

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss

(2009) Ángeles Mencía et al.   NATURE GENETICS

7SK snRNP/P-TEFb couples transcription elongation with alternative splicing and is essential for vertebrate development

(2009) M. Barboric et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The La-related protein LARP7 is a component of the 7SK ribonucleoprotein and affects transcription of cellular and viral polymerase II genes

(2008) Andreas Markert et al.   EMBO REPORTS

A La-Related Protein Modulates 7SK snRNP Integrity to Suppress P-TEFb-Dependent Transcriptional Elongation and Tumorigenesis

(2008) Nanhai He et al.   MOLECULAR CELL

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

(2008) Trilochan Sahoo et al.   NATURE GENETICS

LARP7 is a stable component of the 7SK snRNP while P-TEFb, HEXIM1 and hnRNP A1 are reversibly associated

(2008) B. J. Krueger et al.   NUCLEIC ACIDS RESEARCH

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

(2008) A. Rauch et al.   SCIENCE