Nature Search

Calcium-dependent protein phosphorylation during secretion by exocytosis in the mast cell

WERNER SIEGHART
THEOHARIS C. THEOHARIDES
PAUL GREENGARD
Research28 Sept 1978
Nature

Volume: 275, P: 329-331
PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors

The authors show PTEN mutations, which can cause both congenital hydrocephalus and autism spectrum disorder, disrupt CSF homeostasis and brain connectivity in mice. Reducing mTORC1 activation ameliorates ventricular enlargement and neuronal deficits.

Tyrone DeSpenza Jr.
Emre Kiziltug
Kristopher T. Kahle
Research24 Feb 2025
Nature Neuroscience

Volume: 28, P: 536-557
Disruption of Cav1.2-mediated signaling is a pathway for ketamine-induced pathology

Ketamine is a general anesthetic that is used also as an anti-depressant, but its use is associated with cystitis. Here, the authors show that ketamine is an antagonist of the Cav1.2 channel in bladder smooth muscle cells, that ablation of this channel in mice mimics the cystitis induced by ketamine, and show that this effect can be abrogated by an agonist of this ion channel.

Huan Chen
David H. Vandorpe
Weiqun Yu
ResearchOpen Access28 Aug 2020
Nature Communications

Volume: 11, P: 1-13
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus

Duy and Weise et al. combined human functional integrative genomics with mouse experimental biology to reveal a neuroprogenitor-based genetic subtype of human hydrocephalus with defective neurogenesis and altered brain–fluid biomechanics.

Phan Q. Duy
Stefan C. Weise
Kristopher T. Kahle
Research04 Apr 2022
Nature Neuroscience

Volume: 25, P: 458-473
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

Vein of Galen malformations (VOGMs) are severe congenital brain arteriovenous malformations. Here the authors work to elucidate the pathogenesis of VOGMs by performing an integrated analysis of 310 VOGM proband family exomes and 336,326 human cerebrovasculature single-cell transcriptomes to identify mutations of key signaling regulators.

Shujuan Zhao
Kedous Y. Mekbib
Kristopher T. Kahle
ResearchOpen Access17 Nov 2023
Nature Communications

Volume: 14, P: 1-23
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

The largest whole-exome sequencing study of sporadic congenital hydrocephalus identities mutations associated with disrupted fetal neuro-gliogenesis as the primary pathophysiological event in a significant number of cases.

Sheng Chih Jin
Weilai Dong
Kristopher T. Kahle
Research19 Oct 2020
Nature Medicine

Volume: 26, P: 1754-1765
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

In a cohort of patients with cerebral arachnoid cysts, multiomic analyses reveal de novo variants causing genetic neurodevelopmental conditions in up to 16% of cases, suggesting that surgery in these cases may not improve non-mass effect-related symptoms.

Adam J. Kundishora
Garrett Allington
Kristopher T. Kahle
Research06 Mar 2023
Nature Medicine

Volume: 29, P: 667-678
Genetic determinants of urine and plasma metabolite levels

Advanced instrumentation and rapid computation are generating ever more data on human genetics, epigenetics, transcriptomics, proteomics and metabolomics, posing challenges of integration and interpretation. New research has applied rigorous statistical analyses to genetic variations identified in patients with kidney disease to find drivers of (patho)physiological differences in urine and plasma metabolomes.

Seth L. Alper
David J. Friedman
News & Views26 Mar 2025
Nature Reviews Nephrology

Volume: 21, P: 441-442
Modulation of brain cation-Cl⁻ cotransport via the SPAK kinase inhibitor ZT-1a

SPAK kinase is a master regulator of cation-Cl⁻ cotransporters. Here the authors describe a new SPAK inhibitor with robust protective effects in rodent hydrocephalous and ischemic stroke models.

Jinwei Zhang
Mohammad Iqbal H. Bhuiyan
Xianming Deng
ResearchOpen Access07 Jan 2020
Nature Communications

Volume: 11, P: 1-17
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Anthony Bleyer, Eric Lander, Mark Daly and colleagues show that frameshift mutations in a large VNTR of MUC1 cause medullary cystic kidney disease type 1. Their discovery sheds light on the biology of this disease and highlights challenges in using massively parallel sequencing technologies to characterize certain types of sequence variants.

Andrew Kirby
Andreas Gnirke
Mark J Daly
Research10 Feb 2013
Nature Genetics

Volume: 45, P: 299-303
Cell-specific mitotic defect and dyserythropoiesis associated with erythroid band 3 deficiency

Barry H. Paw
Alan J. Davidson
Leonard I. Zon
Research31 Mar 2003
Nature Genetics

Volume: 34, P: 59-64
Inflammation-dependent cerebrospinal fluid hypersecretion by the choroid plexus epithelium in posthemorrhagic hydrocephalus

In a rat model of hydrocephalus triggered by intraventricular hemorrhage, Kristopher Kahle and colleagues show that TLR4–NF-κB-dependent inflammatory signaling in the choroid plexus causes hypersecretion of cerebrospinal fluid that drives hydrocephalus. Targeting TLR4–NF-κB-mediated signaling or the NKCC1–SPAK complex ameliorates hydrocephalus.

Jason K Karimy
Jinwei Zhang
Kristopher T Kahle
Research10 Jul 2017
Nature Medicine

Volume: 23, P: 997-1003
Inflammation in acquired hydrocephalus: pathogenic mechanisms and therapeutic targets

In this Review, Karimy et al. discuss the mechanisms by which inflammation can contribute to the pathogenesis of acquired hydrocephalus and highlight targets for therapeutic intervention.

Jason K. Karimy
Benjamin C. Reeves
Kristopher T. Kahle
Reviews09 Mar 2020
Nature Reviews Neurology

Volume: 16, P: 285-296
Phenomic data-facilitated rust and senescence prediction in maize using machine learning algorithms

Aaron J. DeSalvio
Alper Adak
Thomas Isakeit
ResearchOpen Access09 May 2022
Scientific Reports

Volume: 12, P: 1-14
Functional and Transcriptomic Characterization of Peritoneal Immune-Modulation by Addition of Alanyl-Glutamine to Dialysis Fluid

Rebecca Herzog
Lilian Kuster
Klaus Kratochwill
ResearchOpen Access24 Jul 2017
Scientific Reports

Volume: 7, P: 1-15
Study of Cathepsin B inhibition in VEGFR TKI treated human renal cell carcinoma xenografts

Chun-Hau Chen
Swati Bhasin
Rupal S. Bhatt
ResearchOpen Access22 Feb 2019
Oncogenesis

Volume: 8, P: 1-18
Functional kinomics establishes a critical node of volume-sensitive cation-Cl⁻ cotransporter regulation in the mammalian brain

Jinwei Zhang
Geng Gao
Kristopher T. Kahle
ResearchOpen Access26 Oct 2016
Scientific Reports

Volume: 6, P: 1-19

Search

Calcium-dependent protein phosphorylation during secretion by exocytosis in the mast cell

PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors

Disruption of Cav1.2-mediated signaling is a pathway for ketamine-induced pathology

Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

Genetic determinants of urine and plasma metabolite levels

Modulation of brain cation-Cl⁻ cotransport via the SPAK kinase inhibitor ZT-1a

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Cell-specific mitotic defect and dyserythropoiesis associated with erythroid band 3 deficiency

Inflammation-dependent cerebrospinal fluid hypersecretion by the choroid plexus epithelium in posthemorrhagic hydrocephalus

Inflammation in acquired hydrocephalus: pathogenic mechanisms and therapeutic targets

Phenomic data-facilitated rust and senescence prediction in maize using machine learning algorithms

Functional and Transcriptomic Characterization of Peritoneal Immune-Modulation by Addition of Alanyl-Glutamine to Dialysis Fluid

Study of Cathepsin B inhibition in VEGFR TKI treated human renal cell carcinoma xenografts

Functional kinomics establishes a critical node of volume-sensitive cation-Cl⁻ cotransporter regulation in the mammalian brain

Search

Quick links

Search

Filter By:

Search

Quick links