Nature Search

Sonic hedgehog medulloblastomas are dependent on Netrin-1 for survival

Despite being an important driver of a subset of medulloblastomas, efforts to therapeutically target Sonic Hedgehog (SHH) signaling, such as with the use of Smoothened (SMO) inhibitors, have had limited success. Here, the authors find that SHH medulloblastomas are sensitive to netrin-1 inhibition and investigate netrin-1 as a mechanism of resistance to SMO inhibition.

Julie Talbot
Joanna Fombonne
Olivier Ayrault
ResearchOpen Access03 Jun 2025
Nature Communications

Volume: 16, P: 1-20
Mapping genomic loci implicates genes and synaptic biology in schizophrenia

A genome-wide association study including over 76,000 individuals with schizophrenia and over 243,000 control individuals identifies common variant associations at 287 genomic loci, and further fine-mapping analyses highlight the importance of genes involved in synaptic processes.

Vassily Trubetskoy
Antonio F. Pardiñas
Jim van Os
Research08 Apr 2022
Nature

Volume: 604, P: 502-508
Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer

Katherine Nathanson and colleagues report a genome-wide association study identifying two loci associated with susceptibility to testicular germ cell tumor.

Peter A Kanetsky
Nandita Mitra
Katherine L Nathanson
Research31 May 2009
Nature Genetics

Volume: 41, P: 811-815
Germline Elongator mutations in Sonic Hedgehog medulloblastoma

Germline mutations in the Elongator complex gene ELP1 predispose individuals to the development of childhood medulloblastoma.

Sebastian M. Waszak
Giles W, Robinson
Stefan M. Pfister
Research01 Apr 2020
Nature

Volume: 580, P: 396-401
Quality control of plasmid preparations

Laurence Gluck
Ludovic Alazay
Didier Wion
Correspondence01 Aug 2001
Nature Biotechnology

Volume: 19, P: 715
New insights into the genetic etiology of Alzheimer’s disease and related dementias

Meta-analysis of genome-wide association studies on Alzheimer’s disease and related dementias identifies new loci and enables generation of a new genetic risk score associated with the risk of future Alzheimer’s disease and dementia.

Céline Bellenguez
Fahri Küçükali
Jean-Charles Lambert
ResearchOpen Access04 Apr 2022
Nature Genetics

Volume: 54, P: 412-436
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Large genome-wide meta-analysis of clinically diagnosed late-onset Alzheimer’s disease (LOAD) from 94,437 individuals identifies new LOAD risk loci and implicates Aβ formation, tau protein binding, immune response and lipid metabolism.

Brian W. Kunkle
Benjamin Grenier-Boley
Margaret A. Pericak-Vance
Research28 Feb 2019
Nature Genetics

Volume: 51, P: 414-430
ERAP1 promotes Hedgehog-dependent tumorigenesis by controlling USP47-mediated degradation of βTrCP

ERAP1 is an endoplasmic reticulum aminopeptidase that trims MHC Class-I peptides for antigen presentation. Here, the authors show that ERAP1 enhances Hedgehog signalling by sequestering USP47 from βTrCP and promoting tumorigenesis through βTrCP degradation and increased Gli protein stability.

Francesca Bufalieri
Paola Infante
Lucia Di Marcotullio
ResearchOpen Access24 Jul 2019
Nature Communications

Volume: 10, P: 1-15
The occurrence of intracranial rhabdoid tumours in mice depends on temporal control of Smarcb1 inactivation

SMARCB1 inactivation is prevalent in human atypical teratoid/rhabdoid tumours but a mouse model that accurately phenocopies the human disease is lacking. Here, the authors show that inactivation of SMARCB1between E6 and E10 in mice results in tumours that better recapitulate the human phenotype, compared to previously reported models.

Zhi-Yan Han
Wilfrid Richer
Franck Bourdeaut
ResearchOpen Access28 Jan 2016
Nature Communications

Volume: 7, P: 1-11
Craniopharyngioma

Craniopharyngiomas are rare malformational intracranial tumours that arise along the craniopharyngeal duct. This Primer describes their formation, diagnosis and treatment, distinguishing between the two histological subtypes — adamantinomatous craniopharyngioma and papillary craniopharyngioma.

Hermann L. Müller
Thomas E. Merchant
Stephanie Puget
Reviews07 Nov 2019
Nature Reviews Disease Primers

Volume: 5, P: 1-19
MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism

Keith Ligon, Adam Resnick, Rameen Beroukhim and colleagues identify MYB-QKI fusions in angiocentric gliomas and show that these rearrangements promote tumorigenesis through activation of MYB by truncation, enhancer translocation driving aberrant MYB-QKI expression and hemizygous loss of QKI.

Pratiti Bandopadhayay
Lori A Ramkissoon
Adam C Resnick
Research01 Feb 2016
Nature Genetics

Volume: 48, P: 273-282
Divergent clonal selection dominates medulloblastoma at recurrence

To address the question of whether a recurrent tumour is genetically similar to the tumour at diagnosis, the evolution of medulloblastoma has been studied in both an in vivo mouse model of clinical tumour therapy as well as in humans with recurrent disease; targeted tumour therapies are usually based on targets present in the tumour at diagnosis but the results from this study indicate that post-treatment recurring tumours (compared with the tumour at diagnosis) have undergone substantial clonal divergence of the initial dominant tumour clone.

A. Sorana Morrissy
Livia Garzia
Michael D. Taylor
Research13 Jan 2016
Nature

Volume: 529, P: 351-357
Locoregionally administered B7-H3-targeted CAR T cells for treatment of atypical teratoid/rhabdoid tumors

CAR T cells administered intracerebroventricularly or intratumorally exhibit more rapid kinetics, reduced systemic toxicity and greater therapeutic potency as compared to intravenously delivered CAR T cells in atypical teratoid/rhabdoid tumor xenograft mouse models.

Johanna Theruvath
Elena Sotillo
Crystal L. Mackall
Research27 Apr 2020
Nature Medicine

Volume: 26, P: 712-719
Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma

Chris Jones, Jacques Grill and colleagues report the identification of recurrent activating mutations in ACVR1 in diffuse intrinsic pontine gliomas.

Kathryn R Taylor
Alan Mackay
Jacques Grill
Research06 Apr 2014
Nature Genetics

Volume: 46, P: 457-461
New outlook on the diagnosis, treatment and follow-up of childhood-onset craniopharyngioma

Childhood-onset craniopharyngioma is a rare embryonic tumour of low-grade malignancy that has traditionally been treated by radical resection. Here, Müller and colleagues review recent advances in the molecular pathogenesis of the disease and treatment strategies that could lead to novel targeted therapies and more-limited surgeries.

Hermann L. Müller
Thomas E. Merchant
Juan-Pedro Martinez-Barbera
Reviews03 Feb 2017
Nature Reviews Endocrinology

Volume: 13, P: 299-312
Patient safety in genomic medicine: an exploratory study

Diane M. Korngiebel
Stephanie M. Fullerton
Wylie Burke
Research24 Mar 2016
Genetics in Medicine

Volume: 18, P: 1136-1142
Strobilurin fungicides in house dust: is wallboard a source?

Ellen M. Cooper
Rosie Rushing
Heather M. Stapleton
Research21 Oct 2019
Journal of Exposure Science & Environmental Epidemiology

Volume: 30, P: 247-252
Hypothalamic syndrome

Hypothalamic syndrome is a rare disorder caused by injury to the hypothalamus from various diseases or their treatment. This Primer provides an overview of the epidemiology, pathophysiology, diagnosis and management of the syndrome, as well as the challenges in preventing hypothalamic injury and treating its sequelae.

Hermann L. Müller
Maithé Tauber
Hanneke M. van Santen
Reviews21 Apr 2022
Nature Reviews Disease Primers

Volume: 8, P: 1-22
Warning sign of an accelerating decline in critically endangered killer whales (Orcinus orca)

The Southern Resident killer whale population will decline slowly for a generation or two before accelerating toward extinction, suggests a model-based population viability analysis accounting for sensitivities to age structure, survival rates, and prey-demography functional relationships.

Rob Williams
Robert C. Lacy
Paul Paquet
ResearchOpen Access02 Apr 2024
Communications Earth & Environment

Volume: 5, P: 1-9
Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor

Arnault Tauziède-Espariat
Julien Masliah-Planchon
Franck Bourdeaut
ResearchOpen Access19 Jul 2017
European Journal of Human Genetics

Volume: 25, P: 1170-1172
Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Brian W. Kunkle
Benjamin Grenier-Boley
Margaret A. Pericak-Vance
Amendments and Corrections15 Aug 2019
Nature Genetics

Volume: 51, P: 1423-1424
A kinome-wide shRNA screen uncovers vaccinia-related kinase 3 (VRK3) as an essential gene for diffuse intrinsic pontine glioma survival

Claudia Silva-Evangelista
Emilie Barret
Marie-Anne Debily
Research19 Jul 2019
Oncogene

Volume: 38, P: 6479-6490
Unraveling the deep learning gearbox in optical coherence tomography image segmentation towards explainable artificial intelligence

Maloca et al. implement convolutional neural network (CNN) to automatically segment OCT images obtained from cynomolgus monkeys. The results are compared to annotations generated by human graders. The ambiguity in ground truth had noteworthy impact on machine learning results, which could be visualized.

Peter M. Maloca
Philipp L. Müller
Nora Denk
ResearchOpen Access05 Feb 2021
Communications Biology

Volume: 4, P: 1-12
Performance of the 12-item WHODAS 2.0 in prodromal Huntington disease

Ji-In Kim
Jeffrey D Long
Ryan Wyse
ResearchOpen Access04 Mar 2015
European Journal of Human Genetics

Volume: 23, P: 1584-1587

Search

Sonic hedgehog medulloblastomas are dependent on Netrin-1 for survival

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer

Germline Elongator mutations in Sonic Hedgehog medulloblastoma

Quality control of plasmid preparations

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

ERAP1 promotes Hedgehog-dependent tumorigenesis by controlling USP47-mediated degradation of βTrCP

The occurrence of intracranial rhabdoid tumours in mice depends on temporal control of Smarcb1 inactivation

Craniopharyngioma

MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism

Divergent clonal selection dominates medulloblastoma at recurrence

Locoregionally administered B7-H3-targeted CAR T cells for treatment of atypical teratoid/rhabdoid tumors

Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma

New outlook on the diagnosis, treatment and follow-up of childhood-onset craniopharyngioma

Patient safety in genomic medicine: an exploratory study

Strobilurin fungicides in house dust: is wallboard a source?

Hypothalamic syndrome

Warning sign of an accelerating decline in critically endangered killer whales (Orcinus orca)

Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor

Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

A kinome-wide shRNA screen uncovers vaccinia-related kinase 3 (VRK3) as an essential gene for diffuse intrinsic pontine glioma survival

Unraveling the deep learning gearbox in optical coherence tomography image segmentation towards explainable artificial intelligence

Performance of the 12-item WHODAS 2.0 in prodromal Huntington disease

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