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Mike Nahorski
Mike Nahorski
Post doctoral Research Associate, University of Cambridge
在 cam.ac.uk 的电子邮件经过验证
标题
引用次数
引用次数
年份
Transcriptional regulator PRDM12 is essential for human pain perception
YC Chen, M Auer-Grumbach, S Matsukawa, M Zitzelsberger, ...
Nature genetics 47 (7), 803-808, 2015
1832015
Neurodevelopmental protein Musashi-1 interacts with the Zika genome and promotes viral replication
PL Chavali, L Stojic, LW Meredith, N Joseph, MS Nahorski, TJ Sanford, ...
Science 357 (6346), 83-88, 2017
1692017
A new locus‐specific database (LSDB) for mutations in the folliculin (FLCN) gene
DHK Lim, PK Rehal, MS Nahorski, F Macdonald, T Claessens, ...
Human mutation 31 (1), E1043-E1051, 2010
1122010
Investigation of the Birt–Hogg–Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer
MS Nahorski, DHK Lim, L Martin, JJP Gille, K McKay, PK Rehal, ...
Journal of medical genetics 47 (6), 385-390, 2010
982010
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development
MS Nahorski, S Maddirevula, R Ishimura, S Alsahli, AF Brady, ...
Brain 141 (7), 1934-1945, 2018
812018
Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
MS Nahorski, L Seabra, A Straatman-Iwanowska, A Wingenfeld, ...
Human molecular genetics 21 (24), 5268-5279, 2012
602012
A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development
MS Nahorski, L Al-Gazali, J Hertecant, DJ Owen, GHH Borner, YC Chen, ...
Brain 138 (8), 2147-2160, 2015
582015
New Mendelian disorders of painlessness
MS Nahorski, YC Chen, CG Woods
Trends in neurosciences 38 (11), 712-724, 2015
452015
Birt Hogg‐Dubé syndrome‐associated FLCN mutations disrupt protein stability
MS Nahorski, A Reiman, DHK Lim, RK Nookala, L Seabra, X Lu, J Fenton, ...
Human mutation 32 (8), 921-929, 2011
442011
PLAA mutations cause a lethal infantile epileptic encephalopathy by disrupting ubiquitin-mediated endolysosomal degradation of synaptic proteins
EA Hall, MS Nahorski, LM Murray, R Shaheen, E Perkins, ...
The American Journal of Human Genetics 100 (5), 706-724, 2017
422017
A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV)
SS Shaikh, YC Chen, SA Halsall, MS Nahorski, K Omoto, GT Young, ...
Human mutation 38 (1), 55-63, 2017
412017
CCDC88A mutations cause PEHO-like syndrome in humans and mouse
MS Nahorski, M Asai, E Wakeling, A Parker, N Asai, N Canham, ...
Brain 139 (4), 1036-1044, 2016
272016
Therapeutic targeting the loss of the birt-hogg-dube suppressor gene
X Lu, W Wei, J Fenton, MS Nahorski, E Rabai, A Reiman, L Seabra, ...
Molecular cancer therapeutics 10 (1), 80-89, 2011
232011
Human labor pain is influenced by the voltage-gated potassium channel KV6. 4 subunit
MC Lee, MS Nahorski, JRF Hockley, VB Lu, G Ison, LA Pattison, G Callejo, ...
Cell reports 32 (3), 2020
212020
Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12
C Moss, SM Srinivas, N Sarveswaran, M Nahorski, VK Gowda, ...
British journal of dermatology 179 (5), 1135-1140, 2018
212018
A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site
SS Shaikh, MS Nahorski, CG Woods
Molecular pain 14, 1744806918809223, 2018
172018
Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development
MS Nahorski, GHH Borner, SS Shaikh, AK Davies, L Al-Gazali, ...
Scientific reports 8 (1), 2340, 2018
172018
PEHO syndrome: the endpoint of different genetic epilepsies
M Chitre, MS Nahorski, K Stouffer, B Dunning-Davies, H Houston, ...
Journal of Medical Genetics 55 (12), 803-813, 2018
162018
Before progressing from “exomes” to “genomes”… don’t forget splicing variants
SS Shaikh, MS Nahorski, H Rai, CG Woods
European Journal of Human Genetics 26 (11), 1559-1562, 2018
122018
Gene expression and protein array studies of folliculin-regulated pathways
A Reiman, X Lu, L Seabra, U Boora, MS Nahorski, W Wei, ER Maher
Anticancer research 32 (11), 4663-4670, 2012
112012
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