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James J Cox
James J Cox
Professor of Human Pain Genetics, UCL
在 ucl.ac.uk 的电子邮件经过验证 - 首页
标题
引用次数
引用次数
年份
An SCN9A channelopathy causes congenital inability to experience pain
JJ Cox, F Reimann, AK Nicholas, G Thornton, E Roberts, K Springell, ...
Nature 444 (7121), 894-898, 2006
18872006
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
PS Tarpey, R Smith, E Pleasance, A Whibley, S Edkins, C Hardy, ...
Nature genetics 41 (5), 535-543, 2009
6882009
Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene
J Gray, GSH Yeo, JJ Cox, J Morton, ALR Adlam, JM Keogh, JA Yanovski, ...
Diabetes 55 (12), 3366-3371, 2006
5952006
A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome
B Kremeyer, F Lopera, JJ Cox, A Momin, F Rugiero, S Marsh, CG Woods, ...
Neuron 66 (5), 671-680, 2010
5212010
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse
M Jacoby, JJ Cox, S Gayral, DJ Hampshire, M Ayub, M Blockmans, ...
Nature genetics 41 (9), 1027-1031, 2009
3712009
Pain perception is altered by a nucleotide polymorphism in SCN9A
F Reimann, JJ Cox, I Belfer, L Diatchenko, DV Zaykin, DP McHale, ...
Proceedings of the National Academy of Sciences 107 (11), 5148-5153, 2010
3692010
WDR62 is associated with the spindle pole and is mutated in human microcephaly
AK Nicholas, M Khurshid, J Désir, OP Carvalho, JJ Cox, G Thornton, ...
Nature genetics 42 (11), 1010-1014, 2010
3582010
Quantification of homozygosity in consanguineous individuals with autosomal recessive disease
CG Woods, J Cox, K Springell, DJ Hampshire, MD Mohamed, M McKibbin, ...
The American Journal of Human Genetics 78 (5), 889-896, 2006
3132006
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
CG Woods, S Stricker, P Seemann, R Stern, J Cox, E Sherridan, ...
The American Journal of Human Genetics 79 (2), 402-408, 2006
2752006
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome
L Willatt, J Cox, J Barber, ED Cabanas, A Collins, D Donnai, ...
The American Journal of Human Genetics 77 (1), 154-160, 2005
2702005
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
B Coste, G Houge, MF Murray, N Stitziel, M Bandell, MA Giovanni, ...
Proceedings of the National Academy of Sciences 110 (12), 4667-4672, 2013
2422013
A role for Piezo2 in EPAC1-dependent mechanical allodynia
N Eijkelkamp, JE Linley, JM Torres, L Bee, AH Dickenson, M Gringhuis, ...
Nature communications 4 (1), 1682, 2013
2372013
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation
P Tarpey, J Parnau, M Blow, H Woffendin, G Bignell, C Cox, J Cox, ...
The American Journal of Human Genetics 75 (2), 318-324, 2004
2282004
What primary microcephaly can tell us about brain growth
J Cox, AP Jackson, J Bond, CG Woods
Trends in molecular medicine 12 (8), 358-366, 2006
2262006
A SOX9 Duplication and Familial 46,XX Developmental Testicular Disorder
JJ Cox, L Willatt, T Homfray, CG Woods
New England Journal of Medicine 364 (1), 91-93, 2011
2072011
Endogenous opioids contribute to insensitivity to pain in humans and mice lacking sodium channel Nav1.7
MS Minett, V Pereira, S Sikandar, A Matsuyama, S Lolignier, ...
Nature communications 6 (1), 8967, 2015
1982015
Sodium channel genes in pain-related disorders: phenotype–genotype associations and recommendations for clinical use
SG Waxman, ISJ Merkies, MM Gerrits, SD Dib-Hajj, G Lauria, JJ Cox, ...
The Lancet Neurology 13 (11), 1152-1160, 2014
1902014
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis
M Bakircioglu, OP Carvalho, M Khurshid, JJ Cox, B Tuysuz, T Barak, ...
The American Journal of Human Genetics 88 (5), 523-535, 2011
1862011
TRPC3 and TRPC6 are essential for normal mechanotransduction in subsets of sensory neurons and cochlear hair cells
K Quick, J Zhao, N Eijkelkamp, JE Linley, F Rugiero, JJ Cox, R Raouf, ...
Open biology 2 (5), 120068, 2012
1742012
Congenital insensitivity to pain: novel SCN9A missense and in‐frame deletion mutations
JJ Cox, J Sheynin, Z Shorer, F Reimann, AK Nicholas, L Zubovic, ...
Human mutation 31 (9), E1670-E1686, 2010
1502010
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