PMC Links for Protein (Select 4757852) - PMC

Select item 48821901.

Widespread expansion of protein interaction capabilities by alternative splicing

Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal

Cell. Author manuscript; available in PMC 2017 Feb 11.

Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029

PMCID:: PMC4882190

Abstract Article PDF–1.9M

Select item 13775492.

Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37.

I Visapää, V Fellman, T Varilo, A Palotie, K O Raivio, L Peltonen

Am J Hum Genet. 1998 Nov; 63(5): 1396–1403. doi: 10.1086/302123

PMCID:: PMC1377549

Summary PDF–451K

Select item 13770943.

The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.

J F Lubianca Neto, L Lu, R D Eavey, M A Flores, R M Caldera, S Sangwatanaroj, J J Schott, B McDonough, J I Santos, C E Seidman, J G Seidman

Am J Hum Genet. 1998 May; 62(5): 1107–1112. doi: 10.1086/301837

PMCID:: PMC1377094

Summary PDF–470K

Select item 4499664.

Internal targeting signal of the BCS1 protein: a novel mechanism of import into mitochondria.

H Fölsch, B Guiard, W Neupert, R A Stuart

EMBO J. 1996 Feb 1; 15(3): 479–487.

PMCID:: PMC449966

Summary Page Browse PDF–2.2M

Select item 69353845.

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease

Monika Oláhová, Camilla Ceccatelli Berti, Jack J Collier, Charlotte L Alston, Elisabeth Jameson, Simon A Jones, Noel Edwards, Langping He, Patrick F Chinnery, Rita Horvath, Paola Goffrini, Robert W Taylor, John A Sayer

Hum Mol Genet. 2019 Nov 15; 28(22): 3766–3776. Published online 2019 Aug 22. doi: 10.1093/hmg/ddz202

PMCID:: PMC6935384

Abstract Article PDF–17M

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