Ngā hua rapu - Nahorski, Michael

A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site mā Shaikh, Samiha S, Nahorski, Michael S, Woods, C Geoffrey

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Before progressing from “exomes” to “genomes”… don’t forget splicing variants mā Shaikh, Samiha S., Nahorski, Michael S., Rai, Harjeet, Woods, C. Geoffrey

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Functional SNP allele discovery (fSNPd): an approach to find highly penetrant, environmental-triggered genotypes underlying complex human phenotypes mā Stouffer, Kaitlin, Nahorski, Michael, Moreno, Pablo, Sarveswaran, Nivedita, Menon, David, Lee, Michael, Geoffrey Woods, C.

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A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV) mā Shaikh, Samiha S., Chen, Ya‐Chun, Halsall, Sally‐Anne, Nahorski, Michael S., Omoto, Kiyoyuki, Young, Gareth T., Phelan, Anne, Woods, Christopher Geoffrey

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Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development mā Nahorski, Michael S., Borner, Georg H. H., Shaikh, Samiha S., Davies, Alexandra K., Al-Gazali, Lihadh, Antrobus, Robin, Woods, C. Geoffrey

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Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis mā Nahorski, Michael S., Seabra, Laurence, Straatman-Iwanowska, Ania, Wingenfeld, Aileen, Reiman, Anne, Lu, Xiaohong, Klomp, Jeff A., Teh, Bin T., Hatzfeld, Mechthild, Gissen, Paul, Maher, Eamonn R.

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CCDC88A mutations cause PEHO-like syndrome in humans and mouse mā Nahorski, Michael S., Asai, Masato, Wakeling, Emma, Parker, Alasdair, Asai, Naoya, Canham, Natalie, Holder, Susan E., Chen, Ya-Chun, Dyer, Joshua, Brady, Angela F., Takahashi, Masahide, Woods, C. Geoffrey

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Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly mā Drissi, Ichrak, Fletcher, Emily, Shaheen, Ranad, Nahorski, Michael, Alhashem, Amal M, Lisgo, Steve, Fernández-Jaén, Alberto, Schon, Katherine, Tlili-Graiess, Kalthoum, Smithson, Sarah F, Lindsay, Susan, J Sharpe, Hayley, Alkuraya, Fowzan S, Woods, Geoff

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A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development mā Nahorski, Michael S., Al-Gazali, Lihadh, Hertecant, Jozef, Owen, David J., Borner, Georg H. H., Chen, Ya-Chun, Benn, Caroline L., Carvalho, Ofélia P., Shaikh, Samiha S., Phelan, Anne, Robinson, Margaret S., Royle, Stephen J., Woods, C. Geoffrey

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Neurodevelopmental protein Musashi 1 interacts with the Zika genome and promotes viral replication mā Chavali, Pavithra L., Stojic, Lovorka, Meredith, Luke W., Joseph, Nimesh, Nahorski, Michael S., Sanford, Thomas J., Sweeney, Trevor R., Krishna, Ben A., Hosmillo, Myra, Firth, Andrew E., Bayliss, Richard, Marcelis, Carlo L., Lindsay, Susan, Goodfellow, Ian, Woods, C. Geoffrey, Gergely, Fanni

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Human Labor Pain Is Influenced by the Voltage-Gated Potassium Channel K(V)6.4 Subunit mā Lee, Michael C., Nahorski, Michael S., Hockley, James R.F., Lu, Van B., Ison, Gillian, Pattison, Luke A., Callejo, Gerard, Stouffer, Kaitlin, Fletcher, Emily, Brown, Christopher, Drissi, Ichrak, Wheeler, Daniel, Ernfors, Patrik, Menon, David, Reimann, Frank, Smith, Ewan St. John, Woods, C. Geoffrey

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Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development mā Nahorski, Michael S, Maddirevula, Sateesh, Ishimura, Ryosuke, Alsahli, Saud, Brady, Angela F, Begemann, Anaïs, Mizushima, Tsunehiro, Guzmán-Vega, Francisco J, Obata, Miki, Ichimura, Yoshinobu, Alsaif, Hessa S, Anazi, Shams, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Monies, Dorota, Abouelhoda, Mohamed, Meyer, Brian F, Alfadhel, Majid, Eyaid, Wafa, Zweier, Markus, Steindl, Katharina, Rauch, Anita, Arold, Stefan T, Woods, C Geoffrey, Komatsu, Masaaki, Alkuraya, Fowzan S

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PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins mā Hall, Emma A., Nahorski, Michael S., Murray, Lyndsay M., Shaheen, Ranad, Perkins, Emma, Dissanayake, Kosala N., Kristaryanto, Yosua, Jones, Ross A., Vogt, Julie, Rivagorda, Manon, Handley, Mark T., Mali, Girish R., Quidwai, Tooba, Soares, Dinesh C., Keighren, Margaret A., McKie, Lisa, Mort, Richard L., Gammoh, Noor, Garcia-Munoz, Amaya, Davey, Tracey, Vermeren, Matthieu, Walsh, Diana, Budd, Peter, Aligianis, Irene A., Faqeih, Eissa, Quigley, Alan J., Jackson, Ian J., Kulathu, Yogesh, Jackson, Mandy, Ribchester, Richard R., von Kriegsheim, Alex, Alkuraya, Fowzan S., Woods, C. Geoffrey, Maher, Eamonn R., Mill, Pleasantine

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Transcriptional regulator PRDM12 is essential for human pain perception mā Chen, Ya-Chun, Auer-Grumbach, Michaela, Matsukawa, Shinya, Zitzelsberger, Manuela, Themistocleous, Andreas C, Strom, Tim M, Samara, Chrysanthi, Moore, Adrian W, Cho, Lily Ting-Yin, Young, Gareth T, Weiss, Caecilia, Schabhüttl, Maria, Stucka, Rolf, Schmid, Annina B, Parman, Yesim, Graul-Neumann, Luitgard, Heinritz, Wolfram, Passarge, Eberhard, Watson, Rosemarie M, Hertz, Jens Michael, Moog, Ute, Baumgartner, Manuela, Valente, Enza Maria, Pereira, Diego, Restrepo, Carlos M, Katona, Istvan, Dusl, Marina, Stendel, Claudia, Wieland, Thomas, Stafford, Fay, Reimann, Frank, von Au, Katja, Finke, Christian, Willems, Patrick J, Nahorski, Michael S, Shaikh, Samiha S, Carvalho, Ofélia P, Nicholas, Adeline K, Karbani, Gulshan, McAleer, Maeve A, Cilio, Maria Roberta, McHugh, John C, Murphy, Sinead M, Irvine, Alan D, Jensen, Uffe Birk, Windhager, Reinhard, Weis, Joachim, Bergmann, Carsten, Rautenstrauss, Bernd, Baets, Jonathan, De Jonghe, Peter, Reilly, Mary M, Kropatsch, Regina, Kurth, Ingo, Chrast, Roman, Michiue, Tatsuo, Bennett, David L H, Woods, C Geoffrey, Senderek, Jan

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