Nature Search

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

Yvon Trottier
Yves Lutz
Jean-Louis Mandel
Research01 Nov 1995
Nature

Volume: 378, P: 403-406
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form

Yvon Trottier
Didier Devys
Jean-Louis Mandel
Research01 May 1995
Nature Genetics

Volume: 10, P: 104-110
Characterization of the full fragile X syndrome mutation in fetal gametes

Henry E. Malter
Jane C. Iber
Ben A. Oostra
Research01 Feb 1997
Nature Genetics

Volume: 15, P: 165-169
Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2

C. Jones
L. Penny
A. Tunnacliffe
Research13 Jul 1995
Nature

Volume: 376, P: 145-149
Heterochromatin drives compartmentalization of inverted and conventional nuclei

Attractions between heterochromatic regions are essential for phase separation of the active and inactive genome in inverted and conventional nuclei, whereas chromatin–lamina interactions are necessary to build the conventional genomic architecture from these segregated phases.

Martin Falk
Yana Feodorova
Leonid A. Mirny
Research05 Jun 2019
Nature

Volume: 570, P: 395-399
Complex Behavior of Simple Repeats: The Fragile X Syndrome

Ben A Oostra
Dicky J J Halley
Reviews01 Nov 1995
Pediatric Research

Volume: 38, P: 629-637
Length of uninterrupted CGG repeats determines instability in the FMR1 gene

Evan E. Eichler
Jeanette J.A. Holden
David L. Nelson
Research01 Sept 1994
Nature Genetics

Volume: 8, P: 88-94
The solution structure of the first KH domain of FMR1, the protein responsible for the fragile X syndrome

The structure and dynamics of the first KH domain of FMR1 — the protein responsible for fragile X syndrome — reveal that an exposed loop is highly flexible despite containing a GxxG motif that is well conserved throughout the KH family. We suggest that this region provides a putative binding surface for RNA recognition.

Giovanna Musco
Abdelhakim Kharrat
Annalisa Pastore
Correspondence01 Sept 1997
Nature Structural Biology

Volume: 4, P: 712-716
Diseases of Unstable Repeat Expansion: Mechanisms and Common Principles

Jennifer R. Gatchel
Huda Y. Zoghbi
Reviews01 Oct 2005
Nature Reviews Genetics

Volume: 6, P: 743-755
Renal abnormalities and an altered inflammatory response in mice lacking cyclooxygenase II

Joseph E. Dinchuk
Bruce D. Car
James M. Trzaskos
Research01 Nov 1995
Nature

Volume: 378, P: 406-409
Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome

Kellie A. Lugenbeel
Andrea M. Peier
David L. Nelson
Research01 Aug 1995
Nature Genetics

Volume: 10, P: 483-485
Detection of polyglutamine expansion in a new acidic protein: a candidate for childhood onset schizophrenia?

S Morinière
C Saada
C Néri
Research22 Jan 1999
Molecular Psychiatry

Volume: 4, P: 58-63
No evidence for expanded polyglutamine sequences in bipolar disorder and schizophrenia

A L Jones
F Middle
M C O'Donovan
Research01 Oct 1997
Molecular Psychiatry

Volume: 2, P: 478-482
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

Georges Imbert
Frédéric Saudou
Alexis Brice
Research01 Nov 1996
Nature Genetics

Volume: 14, P: 285-291
Hierarchical TAF1-dependent co-translational assembly of the basal transcription factor TFIID

Here, the authors combine RNA-immunoprecipitation, single-molecule imaging and proteomics to chart the co-translational assembly pathway of the large general transcription factor TFIID complex from its component building blocks.

Andrea Bernardini
Pooja Mukherjee
László Tora
ResearchOpen Access29 Jun 2023
Nature Structural & Molecular Biology

Volume: 30, P: 1141-1152
Isolation of a novel potassium channel gene hSKCa3 containing a polymorphic CAG repeat: a candidate for schizophrenia and bipolar disorder?

K G Chandy
E Fantino
J J Gargus
Research24 Feb 1998
Molecular Psychiatry

Volume: 3, P: 32-37
XPC is an RNA polymerase II cofactor recruiting ATAC to promoters by interacting with E2F1

XPC plays an important role in the nuclear exicision repair pathways. Here the authors show that in addition, XPC plays a role in transcription regulation by interacting with KAT2A and E2F1 and recruiting the ATAC coactivator complex to promoters.

B. Bidon
I. Iltis
N. Le May
ResearchOpen Access04 Jul 2018
Nature Communications

Volume: 9, P: 1-12
Identifying polyglutamine protein species in situ that best predict neurodegeneration

Conformation-specific antibodies and longitudinal tracking of individual neurons in situ identifies a toxic monomer species linked to Huntington's disease.

Jason Miller
Montserrat Arrasate
Steven Finkbeiner
Research30 Oct 2011
Nature Chemical Biology

Volume: 7, P: 925-934
Anticipation in Japanese families with schizophrenia

A. Imamura
Sumihisa Honda
Yuji Okazaki
Research01 Dec 1998
Journal of Human Genetics

Volume: 43, P: 217-223
Risk factors and outcome of graft failure after HLA matched and mismatched unrelated donor hematopoietic stem cell transplantation: a study on behalf of SFGM-TC and SFHI

T Cluzeau
J Lambert
P Loiseau
Research08 Feb 2016
Bone Marrow Transplantation

Volume: 51, P: 687-691
Schizophrenia genetics: expansion of knowledge?

C A Ross
Editorial22 Jan 1999
Molecular Psychiatry

Volume: 4, P: 4-5
The genomic structure and expression of MJD, the Machado-Joseph disease gene

Y. Ichikawa
J. Goto
I. Kanazawa
Research01 Jun 2001
Journal of Human Genetics

Volume: 46, P: 413-422
Puzzles of psychiatric genetics—new candidate gene approaches

C A Ross
R L Margolis
News01 Oct 1997
Molecular Psychiatry

Volume: 2, P: 432-433
Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology

Giovanni Stevanin
Alexandra Dürr
Alexis Brice
Reviews22 Feb 2000
European Journal of Human Genetics

Volume: 8, P: 4-18
Impact of KIR/HLA genetic combinations on double umbilical cord blood transplantation outcomes. Results of a French multicentric retrospective study on behalf of the Société Francophone de Greffe de Moelle et de Thérapie Cellulaire (SFGM-TC) and the Société Francophone d’Histocompatibilité et d’Immunogénétique (SFHI)

P Rettman
F Malard
K Gagne
Correspondence06 Jun 2016
Bone Marrow Transplantation

Volume: 51, P: 1499-1503
Pretransplant HLA mistyping in diagnostic samples of acute myeloid leukemia patients due to acquired uniparental disomy

V Dubois
F Sloan-Béna
J-M Tiercy
Research14 Mar 2012
Leukemia

Volume: 26, P: 2079-2085
Factors predicting allogeneic PBSCs yield after G-CSF treatment in healthy donors

E Brissot
P Chevallier
M Mohty
Correspondence23 Mar 2009
Bone Marrow Transplantation

Volume: 44, P: 613-615

Search

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form

Characterization of the full fragile X syndrome mutation in fetal gametes

Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2

Heterochromatin drives compartmentalization of inverted and conventional nuclei

Complex Behavior of Simple Repeats: The Fragile X Syndrome

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

The solution structure of the first KH domain of FMR1, the protein responsible for the fragile X syndrome

Diseases of Unstable Repeat Expansion: Mechanisms and Common Principles

Renal abnormalities and an altered inflammatory response in mice lacking cyclooxygenase II

Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome

Detection of polyglutamine expansion in a new acidic protein: a candidate for childhood onset schizophrenia?

No evidence for expanded polyglutamine sequences in bipolar disorder and schizophrenia

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

Hierarchical TAF1-dependent co-translational assembly of the basal transcription factor TFIID

Isolation of a novel potassium channel gene hSKCa3 containing a polymorphic CAG repeat: a candidate for schizophrenia and bipolar disorder?

XPC is an RNA polymerase II cofactor recruiting ATAC to promoters by interacting with E2F1

Identifying polyglutamine protein species in situ that best predict neurodegeneration

Anticipation in Japanese families with schizophrenia

Risk factors and outcome of graft failure after HLA matched and mismatched unrelated donor hematopoietic stem cell transplantation: a study on behalf of SFGM-TC and SFHI

Schizophrenia genetics: expansion of knowledge?

The genomic structure and expression of MJD, the Machado-Joseph disease gene

Puzzles of psychiatric genetics—new candidate gene approaches

Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology

Pretransplant HLA mistyping in diagnostic samples of acute myeloid leukemia patients due to acquired uniparental disomy

Factors predicting allogeneic PBSCs yield after G-CSF treatment in healthy donors

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