PMC Links for Protein (Select 224994203) - PMC

Select item 69614061.

Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report

Maryam Sobhani, Mohammad Amin Tabatabaiefar, Soudeh Ghafouri-Fard, Asadollah Rajab, Asal Hojjat, Abdol-Mohammad Kajbafzadeh, Mohammad Reza Noori-Daloii

BMC Med Genet. 2020; 21: 13. Published online 2020 Jan 14. doi: 10.1186/s12881-020-0950-4

Correction in:: BMC Med Genet. 2020; 21: 58.

PMCID:: PMC6961406

Article PDF–1.1M

Select item 58467392.

WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis

Masafumi Kobayashi, Maiko Miyagawa, Shin-ya Nishio, Hideaki Moteki, Taro Fujikawa, Kenji Ohyama, Hirofumi Sakaguchi, Ikuyo Miyanohara, Akiko Sugaya, Yasushi Naito, Shin-ya Morita, Yukihiko Kanda, Masahiro Takahashi, Kotaro Ishikawa, Yuki Nagano, Tetsuya Tono, Chie Oshikawa, Chiharu Kihara, Haruo Takahashi, Yoshihiro Noguchi, Shin-ichi Usami

PLoS One. 2018; 13(3): e0193359. Published online 2018 Mar 12. doi: 10.1371/journal.pone.0193359

PMCID:: PMC5846739

Article PDF–5.5M

Select item 70160173.

Functional Innovation in the Evolution of the Calcium-Dependent System of the Eukaryotic Endoplasmic Reticulum

Daniel E. Schäffer, Lakshminarayan M. Iyer, A. Maxwell Burroughs, L. Aravind

Front Genet. 2020; 11: 34. Published online 2020 Feb 6. doi: 10.3389/fgene.2020.00034

PMCID:: PMC7016017

Article PDF–6.6M

Select item 68876514.

The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing

Dan-Dan Wang, Fang-Yuan Hu, Feng-Juan Gao, Sheng-Hai Zhang, Ping Xu, Guo-Hong Tian, Ji-Hong Wu

Front Genet. 2019; 10: 1217. Published online 2019 Nov 26. doi: 10.3389/fgene.2019.01217

PMCID:: PMC6887651

Article PDF–1.6M

Select item 63474565.

Mutation screening in non-syndromic hearing loss patients with cochlear implantation by massive parallel sequencing in Taiwan

Wei-Hsiu Liu, Pi-Yueh Chang, Shih-Cheng Chang, Jang-Jih Lu, Che-Ming Wu

PLoS One. 2019; 14(1): e0211261. Published online 2019 Jan 25. doi: 10.1371/journal.pone.0211261

PMCID:: PMC6347456

Article PDF–1.1M

Select item 55350056.

Monogenic diabetes syndromes: Locus‐specific databases for Alström, Wolfram, and Thiamine‐responsive megaloblastic anemia

Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu‐Wai‐Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjaerg, Jian‐Hua Chen, Annabel Chaussenot, Virginia Nunes, Bess Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Veronique Paquis‐Flucklinger, Tarekign Geberhiwot, Wojciech Mlynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumihiko Urano, Robert Semple, Richard Sinnott, Timothy G. Barrett

Hum Mutat. 2017 Jul; 38(7): 764–777. Published online 2017 Jun 1. doi: 10.1002/humu.23233

PMCID:: PMC5535005

Article PDF–503K

Select item 45929727.

Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1

Xuli Qian, Luyang Qin, Guangqian Xing, Xin Cao

Sci Rep. 2015; 5: 14731. Published online 2015 Oct 5. doi: 10.1038/srep14731

PMCID:: PMC4592972

Article PDF–1.2M

Select item 42272058.

Orthologs of Human Disease Associated Genes and RNAi Analysis of Silencing Insulin Receptor Gene in Bombyx mori

Zan Zhang, Xiaolu Teng, Maohua Chen, Fei Li

Int J Mol Sci. 2014 Oct; 15(10): 18102–18116. Published online 2014 Oct 9. doi: 10.3390/ijms151018102

PMCID:: PMC4227205

Article PDF–1.1M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 8

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity