Nature Search

Molecular genetic evidence for heterogeneity in manic depression

Stephen Hodgkinson
Robin Sherrington
Jon Brynjolfsson
Research26 Feb 1987
Nature

Volume: 325, P: 805-806
PI3Kγ in B cells promotes antibody responses and generation of antibody-secreting cells

Lucas and colleagues show that differentiating B cells switch expression of PI3Kδ to PI3Kγ and that this switch is required for optimal T cell-dependent IgG antibody production in both mice and humans.

Stephen M. Lanahan
Lucas Yang
Carrie L. Lucas
Research03 Jul 2024
Nature Immunology

Volume: 25, P: 1422-1431
Epithelial-to-mesenchymal transition is not required for lung metastasis but contributes to chemoresistance

An epithelial-to-mesenchymal transition (EMT) lineage-tracing system in a mouse model of breast-to-lung metastasis reveals that although some cells undergo EMT in a primary epithelial tumour, the lung metastases mainly arise from cells that have not undergone EMT; in addition, cells that have undergone EMT appear more resistant to chemotherapy.

Kari R. Fischer
Anna Durrans
Dingcheng Gao
Research11 Nov 2015
Nature

Volume: 527, P: 472-476
Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity

A20, encoded by TNFAIP3, is a negative-feedback inhibitor of NF-κB. Grey and colleagues identify natural human variants of TNFAIP3, which lower A20 activity and increase autoinflammatory responses. These alleles were inherited by descendants of Denisovans who crossed the Wallace Line to inhabit Oceania.

Nathan W. Zammit
Owen M. Siggs
Shane T. Grey
Research18 Sept 2019
Nature Immunology

Volume: 20, P: 1299-1310
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

Roifman Syndrome is a rare disorder whose disease manifestations include growth retardation, spondyloepiphyseal dysplasia and immunodeficiency. Here, the authors use whole-genome sequencing to discover that rare compound heterozygous variants disrupting the small nuclear RNA gene RNU4ATACcause Roifman Syndrome.

Daniele Merico
Maian Roifman
Stephen W. Scherer
ResearchOpen Access02 Nov 2015
Nature Communications

Volume: 6, P: 1-10
Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses

Common variable immunodeficiency (CVID) is the most prevalent primary immunodeficiency. Here the authors perform single-cell omics analyses in CVID-discordant monozygotic twins and show epigenetic and transcriptional alterations associated with activation in memory B cells.

Javier Rodríguez-Ubreva
Anna Arutyunyan
Esteban Ballestar
ResearchOpen Access01 Apr 2022
Nature Communications

Volume: 13, P: 1-18
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Gilean McVean and colleagues report the results of a large-scale clinical genome sequencing project spanning a broad spectrum of disorders. They identify factors influencing successful genetic diagnosis and highlight the challenges of interpreting findings for genetically heterogeneous disorders.

Jenny C Taylor
Hilary C Martin
Gilean McVean
Research18 May 2015
Nature Genetics

Volume: 47, P: 717-726
TACI is mutant in common variable immunodeficiency and IgA deficiency

Emanuela Castigli
Stephen A Wilson
Raif S Geha
Research10 Jul 2005
Nature Genetics

Volume: 37, P: 829-834
594 HIGH RISK ACUTE LYMPHOCYTIC LEUKEMIA (ALL): PROBLEM OF EARLY RELAPSE

Gary V Dahl
Rhomes J A Aur
Alvin M Mauer
Research01 Apr 1978
Pediatric Research

Volume: 12, P: 462
Prefrontal responses to drug cues: a neurocognitive analysis

Stephen J Wilson
Michael A Sayette
Julie A Fiez
Reviews24 Feb 2004
Nature Neuroscience

Volume: 7, P: 211-214
Reprogramming human T cell function and specificity with non-viral genome targeting

A non-viral strategy to introduce large DNA sequences into T cells enables the correction of a pathogenic mutation that causes autoimmunity, and the replacement of an endogenous T-cell receptor with an engineered receptor that can recognize cancer antigens.

Theodore L. Roth
Cristina Puig-Saus
Alexander Marson
Research11 Jul 2018
Nature

Volume: 559, P: 405-409
Patient-reported symptom burden in patients with rare cancers receiving pembrolizumab in a phase II Clinical Trial

Tito R. Mendoza
David S. Hong
Aung Naing
ResearchOpen Access23 Aug 2022
Scientific Reports

Volume: 12, P: 1-10
Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing

Daniele Merico
Nigel Sharfe
Chaim M. Roifman
ResearchOpen Access13 Jan 2025
npj Genomic Medicine

Volume: 10, P: 1-11
Changes in Human In vivo Serotonin and Dopamine Transporter Availabilities during Chronic Antidepressant Administration

Akira Kugaya
Nicholas M Seneca
Robert B Innis
Research19 Jul 2002
Neuropsychopharmacology

Volume: 28, P: 413-420
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency

Daniele Merico
Yehonatan Pasternak
Chaim M. Roifman
ResearchOpen Access18 Nov 2021
npj Genomic Medicine

Volume: 6, P: 1-6
The long QT syndrome family of cardiac ion channelopathies: A HuGE review

Stephen M Modell
Michael H Lehmann
Reviews01 Mar 2006
Genetics in Medicine

Volume: 8, P: 143-155

Search

Molecular genetic evidence for heterogeneity in manic depression

PI3Kγ in B cells promotes antibody responses and generation of antibody-secreting cells

Epithelial-to-mesenchymal transition is not required for lung metastasis but contributes to chemoresistance

Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

TACI is mutant in common variable immunodeficiency and IgA deficiency

594 HIGH RISK ACUTE LYMPHOCYTIC LEUKEMIA (ALL): PROBLEM OF EARLY RELAPSE

Prefrontal responses to drug cues: a neurocognitive analysis

Reprogramming human T cell function and specificity with non-viral genome targeting

Patient-reported symptom burden in patients with rare cancers receiving pembrolizumab in a phase II Clinical Trial

Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing

Changes in Human In vivo Serotonin and Dopamine Transporter Availabilities during Chronic Antidepressant Administration

Homozygous duplication identified by whole genome sequencing causes LRBA deficiency

The long QT syndrome family of cardiac ion channelopathies: A HuGE review

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