Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome (Q45163832)

10 December 2017

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome (English)

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10 December 2017

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Katherina Walz

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James R Lupski

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Weimin Bi

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G Mustafa Saifi

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Christine J Shaw

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Patricia Fonseca

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Meredith Wilson

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Lorraine Potocki

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30 September 2004

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515-524

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https://scigraph.springernature.com/pub.10.1007/s00439-004-1187-6

10 December 2017

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CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)

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12 December 2020

Cloning of a retinoic acid-induced gene, GT1, in the embryonal carcinoma cell line P19: neuron-specific expression in the mouse brain

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Binding protein-dependent transport systems

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SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene

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Allelic Variation in Human Gene Expression

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12 December 2020

WWW-query: an on-line retrieval system for biological sequence banks

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12 December 2020

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

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12 December 2020

A trithorax-like gene is interrupted by chromosome 11q23 translocations in acute leukaemias

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12 December 2020

RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients

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12 December 2020

Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?

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12 December 2020

Structure of the PHD zinc finger from human Williams-Beuren syndrome transcription factor

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12 December 2020

Cloning and characterization of a novel sequence-specific single-stranded-DNA-binding protein

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12 December 2020

Taspase1: a threonine aspartase required for cleavage of MLL and proper HOX gene expression

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12 December 2020

The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome

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12 December 2020

MLL targets SET domain methyltransferase activity to Hox gene promoters

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12 December 2020

Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.

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12 December 2020

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

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12 December 2020

Solution structure of the PHD domain from the KAP-1 corepressor: structural determinants for PHD, RING and LIM zinc-binding domains

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12 December 2020

ALL-1 is a histone methyltransferase that assembles a supercomplex of proteins involved in transcriptional regulation

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12 December 2020

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

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12 December 2020

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

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12 December 2020

When the message goes awry: disease-producing mutations that influence mRNA content and performance.

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12 December 2020

Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia.

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12 December 2020

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

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12 December 2020

Mutations in RAI1 associated with Smith-Magenis syndrome.

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12 December 2020

The spasmodic upper-body squeeze: a characteristic behavior in Smith-Magenis syndrome

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12 December 2020

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

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12 December 2020

Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.

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12 December 2020

Hydroxyproline-rich glycoproteins in plant reproductive tissues: structure, functions and regulation

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12 December 2020

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients

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12 December 2020

Analysis of 14 CAG repeat-containing genes in schizophrenia.

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12 December 2020

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

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12 December 2020

Bacterial periplasmic transport systems: structure, mechanism, and evolution

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12 December 2020

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

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12 December 2020

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).

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12 December 2020

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

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12 December 2020

The PHD finger: implications for chromatin-mediated transcriptional regulation

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12 December 2020

Interstitial deletion of (17)(p11.2p11.2) in nine patients

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12 December 2020

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

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12 December 2020

Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders

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12 December 2020

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

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12 December 2020

The nuclear factor SPBP contains different functional domains and stimulates the activity of various transcriptional activators

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12 December 2020

10.1007/S00439-004-1187-6

Identifiers

DOI

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10 December 2017

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