Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations (Q28248837)

10

0 references

James R. Lupski

11

object named as

James R Lupski

0 references

Pedro Mancias

7

object named as

Pedro Mancias

0 references

author name string

Ken Inoue

1

0 references

Mehrdad Khajavi

2

0 references

Shin-ichi Hirabayashi

4

0 references

John Wilson

5

0 references

James D Reggin

6

0 references

Ian J Butler

8

0 references

Miles F Wilkinson

Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation

9

0 references

language of work or name

English

0 references

publication date

April 2004

0 references

published in

Nature Genetics

0 references

volume

36

0 references

issue

4

0 references

page(s)

361-9

0 references

cites work

1 reference

Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease

21 January 2018

1 reference

Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

21 January 2018

1 reference

Terminal differentiation of myelin-forming oligodendrocytes depends on the transcription factor Sox10

21 January 2018

1 reference

The transcription factor Sox10 is a key regulator of peripheral glial development.

21 January 2018

1 reference

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

21 January 2018

1 reference

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

21 January 2018

1 reference

An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome

21 January 2018

1 reference

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain

21 January 2018

1 reference

Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome

21 January 2018

1 reference

A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies

21 January 2018

1 reference

Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature

21 January 2018

1 reference

Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients

21 January 2018

1 reference

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

21 January 2018

1 reference

A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro

21 January 2018

1 reference

Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies

21 January 2018

1 reference

Dominant-negative effect on adhesion by myelin Po protein truncated in its cytoplasmic domain

21 January 2018

1 reference

Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts

21 January 2018

1 reference

Nonsense-mediated mRNA decay in health and disease

21 January 2018

1 reference

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

21 January 2018

1 reference

Killing the messenger: new insights into nonsense-mediated mRNA decay

21 January 2018

1 reference

Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-a

21 January 2018

1 reference

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome

21 January 2018

1 reference

Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes

21 January 2018

1 reference

Nonsense mutations in the human beta-globin gene affect mRNA metabolism

21 January 2018

1 reference

Absence of messenger RNA for beta globin chain in beta(0) thalassaemia.

21 January 2018

1 reference

Rapid functional analysis in Xenopus oocytes of Po protein adhesive interactions.

21 January 2018

1 reference

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

21 January 2018

1 reference

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

21 January 2018

1 reference

Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?

21 January 2018

1 reference

Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability

21 January 2018

1 reference

Protein zero gene expression is regulated by the glial transcription factor Sox10

21 January 2018

1 reference

Boundary-independent polar nonsense-mediated decay

21 January 2018

1 reference

The association of Waardenburg syndrome and Hirschsprung megacolon

21 January 2018

1 reference

Development and degeneration of dorsal root ganglia in the absence of the HMG-domain transcription factor Sox10

21 January 2018

1 reference

Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10

21 January 2018

1 reference

Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Sox10, a novel transcriptional modulator in glial cells

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases

1 reference