Nature Search

Construction of 700 human/mouse A9 monochromosomal hybrids and analysis of imprinted genes on human chromosome 6

J. Inoue
K. Mitsuya
M. Oshimura
Research01 Mar 2001
Journal of Human Genetics

Volume: 46, P: 137-145
Promoter-specific imprinting of the human insulin-like growth factor-II gene

Thanh H. Vu
Andrew R. Hoffman
Research20 Oct 1994
Nature

Volume: 371, P: 714-717
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

Frameshift mutations that create arginine-rich basic tails in transcription factors and other proteins can lead to altered phase separation in the nucleolus, which in turn leads to syndromes such as brachyphalangy, polydactyly and tibial aplasia.

Martin A. Mensah
Henri Niskanen
Denes Hnisz
ResearchOpen Access08 Feb 2023
Nature

Volume: 614, P: 564-571
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Discovering disease genes on the X chromosome can be particularly challenging. Here, the authors use features of known disease genes and machine learning to predict genes that remain to be associated with disorders on this chromosome.

Elsa Leitão
Christopher Schröder
Christel Depienne
ResearchOpen Access02 Nov 2022
Nature Communications

Volume: 13, P: 1-17
X-linked mental retardation

H.-Hilger Ropers
Ben C. J. Hamel
Reviews01 Jan 2005
Nature Reviews Genetics

Volume: 6, P: 46-57
Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Hossein Najmabadi
Hao Hu
H. Hilger Ropers
Research21 Sept 2011
Nature

Volume: 478, P: 57-63
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

H Hu
S A Haas
V M Kalscheuer
ResearchOpen Access03 Feb 2015
Molecular Psychiatry

Volume: 21, P: 133-148
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Kerstin Kutsche and colleagues report that mutations in GRIN2A and GRIN2B cause variable neurodevelopmental phenotypes including mental retardation and epilepsy. GRIN2A and GRIN2B encode regulatory subunits of N-methyl-D-aspartate (NMDA) receptors, which mediate excitatory neurotransmission in the brain.

Sabine Endele
Georg Rosenberger
Kerstin Kutsche
Research03 Oct 2010
Nature Genetics

Volume: 42, P: 1021-1026
Rapamycin and T cell costimulatory blockade as post-transplant treatment promote fully MHC-mismatched allogeneic bone marrow engraftment under irradiation-free conditioning therapy

T Wu
H Sozen
Z Guo
Research05 Jul 2002
Bone Marrow Transplantation

Volume: 29, P: 949-956
Functional specificity in biomolecular condensates revealed by genetic complementation

Biomolecular condensates are membraneless cellular compartments that concentrate molecules such as proteins and nucleic acids. In this Review, the authors discuss how complementation experiments, a classic genetics approach, have provided valuable insights into the functions of biomolecular condensates.

Benjamin R. Sabari
Anthony A. Hyman
Denes Hnisz
Reviews21 Oct 2024
Nature Reviews Genetics

Volume: 26, P: 279-290
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Elizabeth E. Palmer
Michael Pusch
Vera M. Kalscheuer
ResearchOpen Access16 Nov 2022
Molecular Psychiatry

Volume: 28, P: 668-697
‘Candidatus Competibacter’-lineage genomes retrieved from metagenomes reveal functional metabolic diversity

Simon J McIlroy
Mads Albertsen
Per H Nielsen
Research31 Oct 2013
The ISME Journal

Volume: 8, P: 613-624
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

Kimia Kahrizi
Cougar Hao Hu
Andreas Tzschach
Research11 Aug 2010
European Journal of Human Genetics

Volume: 19, P: 115-117
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

E E Palmer
T Stuhlmann
V M Kalscheuer
ResearchOpen Access23 Aug 2016
Molecular Psychiatry

Volume: 23, P: 222-230
In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells

H Ito
H Shiwaku
H Okazawa
ResearchOpen Access29 Jul 2014
Molecular Psychiatry

Volume: 20, P: 459-471

Search

Construction of 700 human/mouse A9 monochromosomal hybrids and analysis of imprinted genes on human chromosome 6

Promoter-specific imprinting of the human insulin-like growth factor-II gene

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

X-linked mental retardation

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Rapamycin and T cell costimulatory blockade as post-transplant treatment promote fully MHC-mismatched allogeneic bone marrow engraftment under irradiation-free conditioning therapy

Functional specificity in biomolecular condensates revealed by genetic complementation

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

‘Candidatus Competibacter’-lineage genomes retrieved from metagenomes reveal functional metabolic diversity

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells

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