Nature Search

Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis

Aymeric Lanore
Christelle Tesson
Eva Camgrand
ResearchOpen Access02 Aug 2025
npj Parkinson's Disease

Volume: 11, P: 1-14
CENP-V is required for proper chromosome segregation through interaction with spindle microtubules in mouse oocytes

Chromosome segregation is essential to avoid aneuploidy, yet in mammalian oocytes it progressively fails in an age-dependent manner. Here the authors identify CENP-V as a microtubule binding and bundling protein crucial to faithful oocyte meiosis, and present Cenp-V−/− oocytes as revealing age-dependent weakening of the spindle assembly checkpoint.

Dalileh Nabi
Hauke Drechsler
Mariola Chacón
ResearchOpen Access11 Nov 2021
Nature Communications

Volume: 12, P: 1-16
The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation

Eva Schrezenmeier
Elisa Kremerskothen
Carsten Bergmann
ResearchOpen Access12 Mar 2021
Genetics in Medicine

Volume: 23, P: 1219-1224
Comprehensive genomic profiles of small cell lung cancer

Genomic sequencing of 110 human small cell lung cancers identifies genomic signatures including nearly ubiquitous bi-allelic inactivation of TP53 and RB1, a role for NOTCH family genes, and somatic rearrangements that create an oncogenic version of TP73.

Julie George
Jing Shan Lim
Roman K. Thomas
Research13 Jul 2015
Nature

Volume: 524, P: 47-53
Histone variant H2A.J accumulates in senescent cells and promotes inflammatory gene expression

Senescence of mammalian cells is characterized by proliferative arrest and expression of an inflammatory phenotype. Here the authors show the H2A variant H2A.J, found only in mammals, accumulates following persistent DNA damage or natural aging.

Kévin Contrepois
Clément Coudereau
Carl Mann
ResearchOpen Access10 May 2017
Nature Communications

Volume: 8, P: 1-18
Correction to: The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation

Eva Schrezenmeier
Elisa Kremerskothen
Carsten Bergmann
Amendments and CorrectionsOpen Access23 Jul 2021
Genetics in Medicine

Volume: 23, P: 2468
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Anaïs Begemann
Heinrich Sticht
Anita Rauch
ResearchOpen Access05 Nov 2020
Genetics in Medicine

Volume: 23, P: 543-554
Human skin aging is associated with increased expression of the histone variant H2A.J in the epidermis

Claudia E. Rübe
Caroline Bäumert
Harry Scherthan
ResearchOpen Access01 Apr 2021
npj Aging and Mechanisms of Disease

Volume: 7, P: 1-11
Transglutaminase 2 promotes tumorigenicity of colon cancer cells by inactivation of the tumor suppressor p53

Patrizia Malkomes
Ilaria Lunger
Michael A. Rieger
ResearchOpen Access08 Jun 2021
Oncogene

Volume: 40, P: 4352-4367

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Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis

CENP-V is required for proper chromosome segregation through interaction with spindle microtubules in mouse oocytes

The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation

Comprehensive genomic profiles of small cell lung cancer

Histone variant H2A.J accumulates in senescent cells and promotes inflammatory gene expression

Correction to: The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Human skin aging is associated with increased expression of the histone variant H2A.J in the epidermis

Transglutaminase 2 promotes tumorigenicity of colon cancer cells by inactivation of the tumor suppressor p53

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