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Showing 51–100 of 493 results

Advanced filters: Author: M Rubinstein Clear advanced filters

Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect

Cornelia de Lange syndrome is a developmental disorder typically caused by mutations in the gene encoding the cohesin loader NIPBL. The authors, here, by analysing previously identified mutations in BRD4 associated with the disease, reveal that a BRD4 mutation affects DNA damage signalling, and perturbs regulation of DNA repair in mutant cells.

Gabrielle Olley
Madapura M. Pradeepa
Charlene Boumendil
ResearchOpen Access25 May 2021
Nature Communications

Volume: 12, P: 1-12
Changes in Glucose-6-phosphatase Activity in Liver and Kidney at Birth

M. J. R. DAWKINS
Research01 Jul 1961
Nature

Volume: 191, P: 72-73
Inhibition of phosphodiesterase-4D in adults with fragile X syndrome: a randomized, placebo-controlled, phase 2 clinical trial

A randomized crossover study of BPN14770 in adult males with fragile X syndrome shows significant cognitive improvement in domains related to language with corresponding improvement in caregiver scales rating language and daily functioning.

Elizabeth M. Berry-Kravis
Mark D. Harnett
Mark E. Gurney
Research29 Apr 2021
Nature Medicine

Volume: 27, P: 862-870
Metabolism of Progesterone and 17α-Hydroxypregnenolone by the Foetal Human Testis in vitro

M. IKONEN
M. NIEMI
Research12 Nov 1966
Nature

Volume: 212, P: 716-717
Content and Release of Amino-acids and Catecholamines in Monkey Brain

F. V. DEFEUDIS
J. M. R. DELGADO
R. H. ROTH
Research05 Jul 1969
Nature

Volume: 223, P: 74-75
Stimulatory Effect of 5-Hydroxytryptamine (Serotonin) on Secretion by Malpighian Tubules of Insects

S. H. P. MADDRELL
D. E. M. PILCHER
B. O. C. GARDINER
Research24 May 1969
Nature

Volume: 222, P: 784-785
Single-cell analysis reveals inflammatory interactions driving macular degeneration

Single-nucleus RNA-seq was used to profile 11 retinas with varying stages of age-related macular degeneration and 6 control retinas. The authors identified shared glial states across neurodegeneration, indicating that the retina provides a human system for investigating therapeutic approaches in neurodegeneration.

Manik Kuchroo
Marcello DiStasio
Brian P. Hafler
ResearchOpen Access05 May 2023
Nature Communications

Volume: 14, P: 1-22
Diploidy and Chromosomal Structural Hybridity in Phytophthora infestans

EVA SANSOME
C. M. BRASIER
Research02 Feb 1973
Nature

Volume: 241, P: 344-345
Electrophoresis in a Thin Layer of Starch-Gel followed by a Plastifying Treatment

J. GROULADE
J. M. FINE
C. OLLIVIER
Research01 Jul 1961
Nature

Volume: 191, P: 72
Malformation syndromes associated with disorders of sex development

Disruption of the precise timing of gonadal differentiation and the exposure to adequate levels of specific hormones during critical periods that is required for normal genital development leads to disorders of sex development. This Review summarises the malformation syndromes associated with disorders of sex development and discusses the recent research into their aetiology.

John M. Hutson
Sonia R. Grover
Samuel D. Pennell
Reviews10 Jun 2014
Nature Reviews Endocrinology

Volume: 10, P: 476-487
Lateral Interaction between Neural Channels sensitive to Texture Density?

D. M. MACKAY
Research21 Sept 1973
Nature

Volume: 245, P: 159-161
Influence of haemoglobin type on the induced ovulation rate in sheep

H. C. PANT
M. D. PANDEY
Research28 Aug 1975
Nature

Volume: 256, P: 738-739
Cortical–Cortical Pathways involved in Reinforcement

J. D. JOHNSON
M. S. GAZZANIGA
Research05 Jul 1969
Nature

Volume: 223, P: 71
Apparent Existence of a Very Penetrating Radiation from Radium and (Radium + Beryllium)

M. E. NAHMIAS
F. L. HOPWOOD
L. G. GRIMMETT
Research24 Jun 1939
Nature

Volume: 143, P: 1065-1066
Maternal paraben exposure triggers childhood overweight development

Parabens are preservatives widely used in consumer products including cosmetics and food. Here the authors demonstrate that maternal paraben exposure may contribute to childhood overweight development by an altered neuronal appetite regulation.

Beate Leppert
Sandra Strunz
Tobias Polte
ResearchOpen Access11 Feb 2020
Nature Communications

Volume: 11, P: 1-12
Enzymes and Radioactivity in Erythrocytes of Different Ages

LESTER M. LEVY
HARRY WALTER
MARTIN D. SASS
Research22 Aug 1959
Nature

Volume: 184, P: 643-644
Electron–optical observations of ordered FeNi in the Estherville meteorite

S. Mehta
P. M. Novotny
J. I. Goldstein
Research13 Mar 1980
Nature

Volume: 284, P: 151-153
Characterization of an RNA binding protein interactome reveals a context-specific post-transcriptional landscape of MYC-amplified medulloblastoma

MYC amplification is an independent prognostic factor for the most aggressive subgroup (Group 3) of pediatric medulloblastoma (G3 MB). Here, the authors highlight the role of the RNA-binding protein, Musashi-1 (MSI1) in G3 MB and identify MSI1-bound targets sharing MYC associated pathways.

Michelle M. Kameda-Smith
Helen Zhu
Sheila K. Singh
ResearchOpen Access06 Dec 2022
Nature Communications

Volume: 13, P: 1-19
Structural elucidation of full-length Pfs48/45 in complex with potent monoclonal antibodies isolated from a naturally exposed individual

Kucharska, Ivanochko and Hailemariam and colleagues solved cryo-EM structures of Pfs48/45, needed for Plasmodium falciparum development, with potent antibodies. The work revealed conformational epitopes, with implications for design of therapies against malaria.

Iga Kucharska
Danton Ivanochko
Jean-Philippe Julien
ResearchOpen Access22 May 2025
Nature Structural & Molecular Biology

Volume: 32, P: 1396-1407
Family history and perceptions about risk and prevention for chronic diseases in primary care: A report from the Family Healthware™ Impact Trial

Louise S Acheson
Catharine Wang
Donald E Nease Jr
Research03 Mar 2010
Genetics in Medicine

Volume: 12, P: 212-218
Intravenous Immune Globulin for the Prevention of Infections in Children with Symptomatic Human Immunodeficiency Virus Infection

Lynne M Mofenson
John Moye JR.
Research01 Apr 1993
Pediatric Research

Volume: 33, P: S80-S89
Deletions in the constant region locus can account for switches in immunoglobulin heavy chain expression

Suzanne Cory
Jillian Jackson
Jerry M. Adams
Research12 Jun 1980
Nature

Volume: 285, P: 450-456
Vasopressor receptor antagonist prevents behavioural effects of vasopressin

M. Le Moal
G. F. Koob
J. Rivier
Research11 Jun 1981
Nature

Volume: 291, P: 491-493
Organic geochemical indicators of palaeoenvironmental conditions of sedimentation

B. M. Didyk
B. R. T. Simoneit
G. Eglinton
Research16 Mar 1978
Nature

Volume: 272, P: 216-222
Structural Revisions in the ω-Halobenzaldehyde Arylhydrazone Series

M. S. GIBSON
Research03 Feb 1962
Nature

Volume: 193, P: 474-475
Dense Alu clustering and a potential new member of the NFκB family within a 90 kilobase HLA Class III segment

François J.M. Iris
Lydie Bougueleret
Daniel Cohen
Research01 Feb 1993
Nature Genetics

Volume: 3, P: 137-145
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

Despite large sequencing and data sharing efforts it often remains challenging to provide a genetic diagnosis for individuals with suspected Mendelian (single-gene) disorders. Here, the authors describe their experiences in identifying likely causal genetic variants in thousands of families and highlight the need to consider a wide range of challenges rather than a narrow focus on sequencing technologies.

Lama AlAbdi
Sateesh Maddirevula
Fowzan S. Alkuraya
ResearchOpen Access29 Aug 2023
Nature Communications

Volume: 14, P: 1-19
KAT3-dependent acetylation of cell type-specific genes maintains neuronal identity in the adult mouse brain

Neuronal identity maintenance is highly regulated. Here, the authors showed that CBP and p300 safeguard neuronal identity through histone acetylation at promoters and enhancers of neuronal specific genes. The loss of both CBP and p300 impairs gene expression, circuit activity, and behavior in mice.

Michal Lipinski
Rafael Muñoz-Viana
Angel Barco
ResearchOpen Access22 May 2020
Nature Communications

Volume: 11, P: 1-18
Viral dynamics in human immunodeficiency virus type 1 infection

Xiping Wei
Sajal K. Ghosh
George M. Shaw
Research12 Jan 1995
Nature

Volume: 373, P: 117-122
Pain responses, anxiety and aggression in mice deficient in pre-proenkephalin

Monika König
Anne M. Zimmer
Andreas Zimmer
Research10 Oct 1996
Nature

Volume: 383, P: 535-538
Selumetinib in adults with NF1 and inoperable plexiform neurofibroma: a phase 2 trial

In a phase 2 trial of adults with neurofibromatosis type 1 and inoperable/growing plexiform neurofibromas, treatment with the MEK inhibitor selumetinib resulted in an objective response rate of 63.6% and improvement in other patient outcomes, with additional biopsy-based data providing further information on drug activity.

Andrea M. Gross
Geraldine O’Sullivan Coyne
Brigitte C. Widemann
Research06 Jan 2025
Nature Medicine

Volume: 31, P: 105-115
Upregulation of CD9 expression during TPA treatment of K562 cells

F Le Naour
C Francastel
E Rubinstein
Research01 Aug 1997
Leukemia

Volume: 11, P: 1290-1297
The Effect of Postnatal Development on the Adherence of Nonfimbriated and Fimbriated Salmonella typhimurium to Isolated Small Intestinal Enterocytes

Ali Moustafa Abd El Monem
Mohammed Saad
Emanuel Lebenthal
Research01 Oct 1988
Pediatric Research

Volume: 24, P: 508-511
Human CD26^high T cells elicit tumor immunity against multiple malignancies via enhanced migration and persistence

The role of human CD4⁺ T cell subsets in cancer immunotherapy is still unclear. Here, the authors show that CD26 identifies three CD4⁺ T cell subsets with distinct immunological properties in both healthy individuals and cancer patients.

Stefanie R. Bailey
Michelle H. Nelson
Chrystal M. Paulos
ResearchOpen Access06 Dec 2017
Nature Communications

Volume: 8, P: 1-13
An integrated multi-omics approach identifies epigenetic alterations associated with Alzheimer’s disease

Multi-omic profiling of brain tissue from patients with Alzheimer’s disease (AD) identifies gains in H3K27ac and H3K9ac linked to transcription and disease pathways. Increasing H3K27ac and H3K9ac in a fly model of AD exacerbates neurodegeneration.

Raffaella Nativio
Yemin Lan
Shelley L. Berger
Research28 Sept 2020
Nature Genetics

Volume: 52, P: 1024-1035
CD81 association with SAMHD1 enhances HIV-1 reverse transcription by increasing dNTP levels

CD81 is shown to interact with SAMHD1 and lead to its proteasomal degradation, thereby impacting dNTP availability and enhancing HIV-1 reverse transcription in primary human T cells.

Vera Rocha-Perugini
Henar Suárez
Maria Yáñez-Mó
Research04 Sept 2017
Nature Microbiology

Volume: 2, P: 1513-1522
Intravenous Immune Globulin for the Prevention of Infections in Children with Symptomatic Human Immunodeficiency Virus Infection

Lynne M Mofenson
John Moye JR.
Research01 Jan 1993
Pediatric Research

Volume: 33, P: S80-S89
Continuous culture of T cells cytotoxic for autologous human leukaemia cells

JOYCE M. ZARLING
FRITZ H. BACH
Research23 Aug 1979
Nature

Volume: 280, P: 685-688
Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16)

RH Giles
JG Dauwerse
MH Breuning
Research01 Dec 1997
Leukemia

Volume: 11, P: 2087-2096
Development of virus non-producer lymphosarcomas in pet cats exposed to FeLV

W. D. Hardy Jr
A. J. McClelland
M. Essex
Research06 Nov 1980
Nature

Volume: 288, P: 90-92
Recombination between heterologous human acrocentric chromosomes

Comparisons within the human pangenome establish that homologous regions on short arms of heterologous human acrocentric chromosomes actively recombine, leading to the high rate of Robertsonian translocation breakpoints in these regions.

Andrea Guarracino
Silvia Buonaiuto
Erik Garrison
ResearchOpen Access10 May 2023
Nature

Volume: 617, P: 335-343
Genetic Basis of the Thalassæmia Diseases

V. M. INGRAM
A. O. W. STRETTON
Research19 Dec 1959
Nature

Volume: 184, P: 1903-1909
Implantation of stimulated homologous macrophages results in partial recovery of paraplegic rats

O. Rapalino
O. Lazarov-Spiegler
M. Schwartz
Research01 Jul 1998
Nature Medicine

Volume: 4, P: 814-821
Conformation of terminal regions in proteins

Janet M. Thornton
Bancinyane L. Chakauya
Research15 Jul 1982
Nature

Volume: 298, P: 296-297
Structure of mycobacterial ATP synthase bound to the tuberculosis drug bedaquiline

Structures of Mycobacterium smegmatis ATP synthase provide insights into how the enzyme conserves energy by autoinhibition of ATP hydrolysis and the mechanism of action of bedaquiline, a drug used in treatment of multidrug-resistant tuberculosis.

Hui Guo
Gautier M. Courbon
John L. Rubinstein
Research09 Dec 2020
Nature

Volume: 589, P: 143-147
Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy

Sita Reddy
Daniel B. J. Smith
David Housman
Research01 Jul 1996
Nature Genetics

Volume: 13, P: 325-335
Restoration of energy homeostasis by SIRT6 extends healthy lifespan

Aging is associated with increased frailty and disrupted energy homeostasis. Here, the authors show that SIRT6 overexpression extends the lifespan of male and female mice and demonstrate that SIRT6 optimizes energy homeostasis in old age, which delays frailty and preserves healthy aging.

A. Roichman
S. Elhanati
H. Y. Cohen
ResearchOpen Access28 May 2021
Nature Communications

Volume: 12, P: 1-18
Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders

Daphne J. Smits
Christophe Debuy
Tahsin Stefan Barakat
Research29 Jul 2025
European Journal of Human Genetics

Volume: 33, P: 1281-1289
Prenatal Variants of Uncertain Significance (VUS): to report or not to report?

Maayke A. de Koning
Malgorzata I. Srebniak
Manon Suerink
Research21 Aug 2025
European Journal of Human Genetics

Volume: 33, P: 1300-1308
Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus

S.T. Bennett
A.M. Lucassen
J.A. Todd
Research01 Mar 1995
Nature Genetics

Volume: 9, P: 284-292

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