Nature Search

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Variants in the PSMC5 gene impair proteasome function and cellular homeostasis, altering brain development in children. This study reveals underlying molecular mechanisms contributing to this neurodevelopmental phenotype, and suggests therapeutic leads for neurodevelopmental proteasomopathies.

Sébastien Küry
Janelle E. Stanton
Elke Krüger
ResearchOpen Access26 Nov 2025
Nature Communications

Volume: 16, P: 1-21
Physical activity as a modifiable risk factor in preclinical Alzheimer’s disease

In cognitively normal older adults at risk for Alzheimer’s dementia, physical inactivity was associated with faster tau protein buildup and cognitive decline.

Wai-Ying Wendy Yau
Dylan R. Kirn
Jasmeer P. Chhatwal
ResearchOpen Access03 Nov 2025
Nature Medicine

Volume: 31, P: 4075-4083
Effects of Extended Cannabis Abstinence on Cognitive Outcomes in Cannabis Dependent Patients with Schizophrenia vs Non-Psychiatric Controls

Rachel A Rabin
Mera S Barr
Tony P George
Research26 Apr 2017
Neuropsychopharmacology

Volume: 42, P: 2259-2271
Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center

Rachel Michaelson-Cohen
Liat Salzer-Sheelo
Idit Maya
Research03 Jul 2020
Genetics in Medicine

Volume: 22, P: 1703-1709
Objective speech measures capture depressive symptoms and associated cognitive difficulties

Micaela Wiseman
Rachel Yep
Jennifer S. Rabin
ResearchOpen Access17 Nov 2025
Translational Psychiatry

Volume: 15, P: 1-9
Reduced Sensitivity to Glucocorticoid Feedback and Reduced Glucocorticoid Receptor mRNA Expression in the Luteal Phase of the Menstrual Cycle

Margaret Altemus
Laura Redwine
Dennis L Murphy
Comments & Opinion01 Aug 1997
Neuropsychopharmacology

Volume: 17, P: 100-109
Pediatric inflammatory bowel disease: Fecal calprotectin response to Anti-tumor necrosis factor alpha

Manar Matar
Rachel Levi
Amit Assa
Research04 Apr 2022
Pediatric Research

Volume: 93, P: 131-136
Dehydration and insulinopenia are necessary and sufficient for euglycemic ketoacidosis in SGLT2 inhibitor-treated rats

The use of sodium-glucose transport protein 2 (SGLT2) inhibitors for the treatment of diabetes has been associated with euglycemic ketoacidosis and increased glucose production and glucagon secretion. Here Perry et al. show that these effects rely on both insulinopenia and dehydration, and thus suggest ways to manage the side effects associated with the use of SGLT2 inhibitors.

Rachel J. Perry
Aviva Rabin-Court
Gerald I. Shulman
ResearchOpen Access01 Feb 2019
Nature Communications

Volume: 10, P: 1-10
Glucagon stimulates gluconeogenesis by INSP3R1-mediated hepatic lipolysis

A role and mechanism of action are identified for INSP3R1 in the stimulation of hepatic gluconeogenesis and mitochondrial oxidation by glucagon, suggesting that INSP3R1 may be a target for ameliorating dysregulation of hepatic glucose metabolism.

Rachel J. Perry
Dongyan Zhang
Gerald I. Shulman
Research04 Mar 2020
Nature

Volume: 579, P: 279-283
Retinoblastoma outcomes in Europe: a prospective analysis of 483 patients from 40 countries

Richard Bowman
Mattan Arazi
Richard Bowman
Research17 Dec 2025
Eye

P: 1-9
Effect of Exposure to Selective Serotonin Reuptake Inhibitors In Utero on Fetal Growth: Potential Role for the IGF-I and HPA Axes

Shmuel Davidson
Diana Prokonov
Abraham Weizman
Research01 Feb 2009
Pediatric Research

Volume: 65, P: 236-241
Insulin dose optimization using an automated artificial intelligence-based decision support system in youths with type 1 diabetes

The randomized-controlled trial ADVICE4U demonstrates non-inferiority of an automated AI-based decision support system compared with advice from expert physicians for optimal insulin dosing in youths with type 1 diabetes.

Revital Nimri
Tadej Battelino
Kerstin Remus
Research09 Sept 2020
Nature Medicine

Volume: 26, P: 1380-1384
Germline AGO2 mutations impair RNA interference and human neurological development

AGO2 binds to miRNAs to repress expression of cognate target mRNAs. Here the authors report that heterozygous AGO2 mutations result in defects in neurological development and impair RNA interference.

Davor Lessel
Daniela M. Zeitler
Hans-Jürgen Kreienkamp
ResearchOpen Access16 Nov 2020
Nature Communications

Volume: 11, P: 1-14
The electroencephalography protocol for the Accelerating Medicines Partnership® Schizophrenia Program: Reliability and stability of measures

Daniel H. Mathalon
Spero Nicholas
Gregory A. Light
ResearchOpen Access06 Jun 2025
Schizophrenia

Volume: 11, P: 1-18
Oral N-acetylcysteine ameliorates liver fibrosis and enhances regenerative responses in Mdr2 knockout mice

Adi Har-Zahav
Ana Tobar
Orith Waisbourd-Zinman
ResearchOpen Access03 Nov 2024
Scientific Reports

Volume: 14, P: 1-11
Evidence for increased breakthrough rates of SARS-CoV-2 variants of concern in BNT162b2-mRNA-vaccinated individuals

At early time points after vaccination with a single dose or two doses of the BNT162b2 mRNA COVID-19 vaccine, breakthrough SARS-CoV-2 infections can be disproportionately caused by the B.1.1.7 or B.1.351 variants of concern, underlining the need to ensure rapid and complete vaccination.

Talia Kustin
Noam Harel
Adi Stern
ResearchOpen Access14 Jun 2021
Nature Medicine

Volume: 27, P: 1379-1384
Joint international consensus statement for ending stigma of obesity

Francesco Rubino
Rebecca M. Puhl
John B. Dixon
ReviewsOpen Access04 Mar 2020
Nature Medicine

Volume: 26, P: 485-497
Academic benchmark of highly influential ophthalmologists listed in the ophthalmology power list

Rachel Shemesh
Alon Tiosano
Gad Dotan
Research18 Jul 2022
Eye

Volume: 37, P: 1503-1508
Neurocognitive moderation of repetitive transcranial magnetic stimulation (rTMS) effects on cannabis use in schizophrenia: a preliminary analysis

Samantha Johnstone
Darby J. E. Lowe
Tony P. George
ResearchOpen Access17 Nov 2022
Schizophrenia

Volume: 8, P: 1-10
Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?

Hagit Daum
Vardiella Meiner
Joël Zlotogora
Research13 Feb 2020
European Journal of Human Genetics

Volume: 28, P: 938-942
Building the world’s first truly global medical foundation model

Yih Chung Tham
Jocelyn Hui Lin Goh
Dinah Zur
Correspondence08 Sept 2025
Nature Medicine

Volume: 31, P: 3580-3585
Dynamic modification strategy of the Israeli prenatal carrier screening protocol: inclusion of the oriental Jewish group to the cystic fibrosis panel—update

Orit Reish
Mordechai Shohat
Daphne Chapman Shimshoni
Correspondence01 May 2009
Genetics in Medicine

Volume: 11, P: 372
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

Yoel Hirsch
Chayada Tangshewinsirikul
Jun Shen
Research04 Jan 2021
European Journal of Human Genetics

Volume: 29, P: 988-997
An Mb1-Cre-driven oncogenic Kras mutation results in a mouse model of T-acute lymphoblastic leukemia/lymphoma with short latency and high penetrance

Jacob J. Junco
Taylor Chen
Karen R. Rabin
Research11 Sept 2020
Leukemia

Volume: 35, P: 1777-1781
Investigating repetitive transcranial magnetic stimulation on cannabis use and cognition in people with schizophrenia

Karolina Kozak Bidzinski
Darby J. E. Lowe
Tony P. George
ResearchOpen Access24 Feb 2022
Schizophrenia

Volume: 8, P: 1-11
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

Elizabeth A. Werren
Emily R. Peirent
Stephanie L. Bielas
ResearchOpen Access30 May 2024
Cell Death & Disease

Volume: 15, P: 1-15
Perinatal and neonatal risk factors for retinopathy of prematurity in very low birthweight, very preterm twins: a population-based study

Rachel Shemesh
Tzipi Strauss
Lev Bakhrakh
Research04 Nov 2023
Eye

Volume: 38, P: 902-909
TMF/ARA160 is a BC-box-containing protein that mediates the degradation of Stat3

Erez Perry
Rachel Tsruya
Uri Nir
Research04 Oct 2004
Oncogene

Volume: 23, P: 8908-8919
Brain health in ethnically minority youth at risk for psychosis

Rachel A. Rabin
Lena Palaniyappan
Research Highlights04 Sept 2023
Neuropsychopharmacology

Volume: 48, P: 1701-1702
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

Yuri A. Zarate
Tomoko Uehara
Kenjiro Kosaki
Research25 Jan 2021
Genetics in Medicine

Volume: 23, P: 1050-1057
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

Erin Torti
Boris Keren
Jane Juusola
Research11 Feb 2019
Genetics in Medicine

Volume: 21, P: 2036-2042
DEGS1 variant causes neurological disorder

Vadim Dolgin
Rachel Straussberg
Ohad S. Birk
Research11 Jun 2019
European Journal of Human Genetics

Volume: 27, P: 1668-1676
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

Diane D. Shao
Rachel Straussberg
Christopher A. Walsh
ResearchOpen Access02 Feb 2021
Genetics in Medicine

Volume: 23, P: 1158-1162
Visual distraction from automobile displays: an impediment to visual performance

Julie Lovell
Jeff Rabin
Kennith Startz
Correspondence01 Feb 2021
Eye

Volume: 36, P: 651-652

Search

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Physical activity as a modifiable risk factor in preclinical Alzheimer’s disease

Effects of Extended Cannabis Abstinence on Cognitive Outcomes in Cannabis Dependent Patients with Schizophrenia vs Non-Psychiatric Controls

Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center

Objective speech measures capture depressive symptoms and associated cognitive difficulties

Reduced Sensitivity to Glucocorticoid Feedback and Reduced Glucocorticoid Receptor mRNA Expression in the Luteal Phase of the Menstrual Cycle

Pediatric inflammatory bowel disease: Fecal calprotectin response to Anti-tumor necrosis factor alpha

Dehydration and insulinopenia are necessary and sufficient for euglycemic ketoacidosis in SGLT2 inhibitor-treated rats

Glucagon stimulates gluconeogenesis by INSP3R1-mediated hepatic lipolysis

Retinoblastoma outcomes in Europe: a prospective analysis of 483 patients from 40 countries

Effect of Exposure to Selective Serotonin Reuptake Inhibitors In Utero on Fetal Growth: Potential Role for the IGF-I and HPA Axes

Insulin dose optimization using an automated artificial intelligence-based decision support system in youths with type 1 diabetes

Germline AGO2 mutations impair RNA interference and human neurological development

The electroencephalography protocol for the Accelerating Medicines Partnership® Schizophrenia Program: Reliability and stability of measures

Oral N-acetylcysteine ameliorates liver fibrosis and enhances regenerative responses in Mdr2 knockout mice

Evidence for increased breakthrough rates of SARS-CoV-2 variants of concern in BNT162b2-mRNA-vaccinated individuals

Joint international consensus statement for ending stigma of obesity

Academic benchmark of highly influential ophthalmologists listed in the ophthalmology power list

Neurocognitive moderation of repetitive transcranial magnetic stimulation (rTMS) effects on cannabis use in schizophrenia: a preliminary analysis

Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?

Building the world’s first truly global medical foundation model

Dynamic modification strategy of the Israeli prenatal carrier screening protocol: inclusion of the oriental Jewish group to the cystic fibrosis panel—update

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

An Mb1-Cre-driven oncogenic Kras mutation results in a mouse model of T-acute lymphoblastic leukemia/lymphoma with short latency and high penetrance

Investigating repetitive transcranial magnetic stimulation on cannabis use and cognition in people with schizophrenia

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

Perinatal and neonatal risk factors for retinopathy of prematurity in very low birthweight, very preterm twins: a population-based study

TMF/ARA160 is a BC-box-containing protein that mediates the degradation of Stat3

Brain health in ethnically minority youth at risk for psychosis

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

DEGS1 variant causes neurological disorder

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

Visual distraction from automobile displays: an impediment to visual performance

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