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Showing 51–72 of 72 results

Advanced filters: Author: C Merriman Clear advanced filters

Insight into rheumatological cause and effect through the use of Mendelian randomization

Mendelian randomization analysis makes use of random inheritance of genetic variants to limit confounding in tests for causal relationships between risk factors and disease outcomes. This Review considers the current and future applications, as well as the limitations, of Mendelian randomization in rheumatology.

Philip C. Robinson
Hyon K. Choi
Tony R. Merriman
Reviews14 Jul 2016
Nature Reviews Rheumatology

Volume: 12, P: 486-496
Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features

Bruno Reversade
Nathalie Escande-Beillard
Uwe Kornak
Amendments and Corrections21 Jan 2022
Nature Genetics

Volume: 54, P: 213
The temporal precision of audiovisual integration is associated with longitudinal fall incidents but not sensorimotor fall risk in older adults

Alan O’Dowd
Rebecca J. Hirst
Fiona N. Newell
ResearchOpen Access03 May 2023
Scientific Reports

Volume: 13, P: 1-11
The genomic landscape of hypodiploid acute lymphoblastic leukemia

Linda Holmfeldt, Lei Wei et al. report whole-genome and exome sequencing of 40 childhood hypodiploid acute lymphoblastic leukemias.

Linda Holmfeldt
Lei Wei
Charles G Mullighan
Research20 Jan 2013
Nature Genetics

Volume: 45, P: 242-252
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Joseph Gleeson and colleagues identify CEP41 mutations as a cause of Joubert syndrome. Their functional studies suggest that CEP41 regulates ciliary entry of TTLL6, an enzyme required for tubulin glutamylation at the cilium.

Ji Eun Lee
Jennifer L Silhavy
Joseph G Gleeson
Research15 Jan 2012
Nature Genetics

Volume: 44, P: 193-199
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1

Bruno Reversade and colleagues show that mutations in IRX5 cause a recessive congenital disorder affecting the development of multiple organs. In follow-up studies in Xenopus laevis, they show that Irx5 influences cell migration by repressing expression of Sdf1.

Carine Bonnard
Anna C Strobl
Bruno Reversade
Research13 May 2012
Nature Genetics

Volume: 44, P: 709-713
Cytokine gene polymorphism in human disease: on-line databases

J Bidwell
L Keen
S D’Alfonso
Reviews29 Sept 1999
Genes & Immunity

Volume: 1, P: 3-19
Correction to: Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects

Riku Takei
Murray Cadzow
Wen-Hua Wei
Amendments and Corrections08 Sept 2020
Journal of Human Genetics

Volume: 66, P: 225
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20

Justin Rubio and colleagues report results of a genome-wide association study of multiple sclerosis using cases from Australia and New Zealand. Their findings confirm several published risk loci for MS and identify two new risk loci on chromosomes 12 and 20.

Melanie Bahlo
David R Booth
Trevor J Kilpatrick
Research14 Jun 2009
Nature Genetics

Volume: 41, P: 824-828
Identification of nonsynonymous polymorphisms in the superantigen-coding region of IDDMK _1,2 22 and a pilot study on the association between IDDMK _1,2 22 and type 1 diabetes

Y. Kinjo
N. Matsuura
N. Takasu
Research01 Dec 2001
Journal of Human Genetics

Volume: 46, P: 712-716
ABCG2 loss-of-function polymorphism predicts poor response to allopurinol in patients with gout

R L Roberts
M C Wallace
L K Stamp
Research26 Jan 2016
The Pharmacogenomics Journal

Volume: 17, P: 201-203
Evidence that deletion at FCGR3B is a risk factor for systemic sclerosis

C McKinney
J C A Broen
T R Merriman
Research03 May 2012
Genes & Immunity

Volume: 13, P: 458-460
Disruption prediction with artificial intelligence techniques in tokamak plasmas

Tokamak plasmas are prone to sudden collapses that terminate the nuclear fusion reactions. This perspective discusses the prediction of these so-called disruptions with artificial intelligence techniques.

J. Vega
A. Murari
I. Zychor
Reviews06 Jun 2022
Nature Physics

Volume: 18, P: 741-750
The impact of CREBRF rs373863828 Pacific-variant on infant body composition

Francesca Amitrano
Mohanraj Krishnan
Christopher J. D. McKinlay
ResearchOpen Access17 Apr 2024
Scientific Reports

Volume: 14, P: 1-8
Genetic variation drives seasonal onset of hibernation in the 13-lined ground squirrel

Katherine Grabek et al. use genotype-by-sequencing to characterize genetic variation in 153 ground squirrels, finding high heritability for hibernation onset. They find 14 loci associated with hibernation onset, and a putative causal variant in the promoter of FAM204A.

Katharine R. Grabek
Thomas F. Cooke
Carlos D. Bustamante
ResearchOpen Access20 Dec 2019
Communications Biology

Volume: 2, P: 1-13
Variable expression quantitative trait loci analysis of breast cancer risk variants

George A. R. Wiggins
Michael A. Black
Logan C. Walker
ResearchOpen Access30 Mar 2021
Scientific Reports

Volume: 11, P: 1-10
Small but significant socioeconomic inequalities in axillary staging and treatment of breast cancer in the Netherlands

M J Aarts
V C Hamelinck
W J Louwman
ResearchOpen Access17 May 2012
British Journal of Cancer

Volume: 107, P: 12-17
How comparable are patient outcomes in the “real-world” with populations studied in pivotal AML trials?

Ing Soo Tiong
Meaghan Wall
Andrew H. Wei
ResearchOpen Access26 Mar 2024
Blood Cancer Journal

Volume: 14, P: 1-11
Laser spectroscopy of indium Rydberg atom bunches by electric field ionization

A. R. Vernon
C. M. Ricketts
X. F. Yang
ResearchOpen Access23 Jul 2020
Scientific Reports

Volume: 10, P: 1-18
The association of diabetes and anti-diabetic medications with clinical outcomes in multiple myeloma

W Wu
K Merriman
S-C J Yeung
ResearchOpen Access12 Jun 2014
British Journal of Cancer

Volume: 111, P: 628-636
Expression of human cationic trypsinogen (PRSS1) in murine acinar cells promotes pancreatitis and apoptotic cell death

T Athwal
W Huang
N Vlatković
ResearchOpen Access10 Apr 2014
Cell Death & Disease

Volume: 5, P: e1165
Associations among late chronotype, body mass index and dietary behaviors in young adolescents

T Arora
S Taheri
Research19 Aug 2014
International Journal of Obesity

Volume: 39, P: 39-44

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