PMC Links for Gene (Select 8291) - PMC

Links from Gene

Items: 1 to 20 of 68

<< First< Prev

Page of 4

Next >Last >>

Select item 107279581.

Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb‐girdle muscular dystrophy

Yen‐Lin Chen, Wen‐Bin Wu, Pei Wang, Ping‐Keung Yip, Yi‐No Wu, Ying‐Hung Lin, Wei‐Ning Lin

Physiol Rep. 2023 Dec; 11(24): e15887. Published online 2023 Dec 18. doi: 10.14814/phy2.15887

PMCID:: PMC10727958

Article PDF–3.6M

Select item 69815842.

Defects in G-Actin Incorporation into Filaments in Myoblasts Derived from Dysferlinopathy Patients Are Restored by Dysferlin C2 Domains

Ximena Báez-Matus, Cindel Figueroa-Cares, Arlek M. Gónzalez-Jamett, Hugo Almarza-Salazar, Christian Arriagada, María Constanza Maldifassi, María José Guerra, Vincent Mouly, Anne Bigot, Pablo Caviedes, Ana M. Cárdenas

Int J Mol Sci. 2020 Jan; 21(1): 37. Published online 2019 Dec 19. doi: 10.3390/ijms21010037

PMCID:: PMC6981584

Article PDF–2.3M

Select item 69003823.

Genetic variability in Iranian limb‐girdle muscular dystrophy type 2B patients: An evidence of a founder effect

Marzieh Mojbafan, Shirzadeh Tina, Fatemeh Zafarghandi Motlagh, Andrei Surguchov, Yalda Nilipour, Sirous Zeinali

Mol Genet Genomic Med. 2019 Dec; 7(12): e1029. Published online 2019 Nov 6. doi: 10.1002/mgg3.1029

PMCID:: PMC6900382

Article PDF–1.4M

Select item 67049864.

Calpains, Cleaved Mini-Dysferlin_C72, and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair

Angela Lek, Frances J. Evesson, Frances A. Lemckert, Gregory M. I. Redpath, Ann-Katrin Lueders, Lynne Turnbull, Cynthia B. Whitchurch, Kathryn N. North, Sandra T. Cooper

J Neurosci. 2013 Mar 20; 33(12): 5085–5094. doi: 10.1523/JNEUROSCI.3560-12.2013

PMCID:: PMC6704986

Article PDF–7.0M

Select item 64692575.

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Janice A. Dominov, Özgün Uyan, Diane McKenna‐Yasek, Babi Ramesh Reddy Nallamilli, Virginie Kergourlay, Marc Bartoli, Nicolas Levy, Judith Hudson, Teresinha Evangelista, Hanns Lochmuller, Martin Krahn, Laura Rufibach, Madhuri Hegde, Robert H. Brown, Jr

Ann Clin Transl Neurol. 2019 Apr; 6(4): 642–654. Published online 2019 Mar 3. doi: 10.1002/acn3.738

PMCID:: PMC6469257

Article PDF–1.4M

Select item 59927096.

Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers

Mahjoubeh Jalali-Sefid-Dashti, Melissa Nel, Jeannine M. Heckmann, Junaid Gamieldien

BMC Med Genet. 2018; 19: 95. Published online 2018 Jun 7. doi: 10.1186/s12881-018-0613-x

PMCID:: PMC5992709

Article PDF–954K

Select item 58364147.

Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet

Florian Barthélémy, Aurélia Defour, Nicolas Lévy, Martin Krahn, Marc Bartoli

J Neuromuscul Dis. 2018; 5(1): 21–28. Published online 2018 Feb 21. doi: 10.3233/JND-170251

PMCID:: PMC5836414

Article PDF–465K

Select item 57876288.

Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy

Muhammad I. Ullah, Arsalan Ahmad, Milena Žarković, Syed S. Shah, Abdul Nasir, Saqib Mahmood, Wasim Ahmad, Christian A. Hübner, Muhammad J. Hassan

Saudi Med J. 2017 Dec; 38(12): 1190–1195. doi: 10.15537/smj.2017.12.20989

PMCID:: PMC5787628

Article PDF–1.8M

Select item 56829679.

Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P

Natalie Woolger, Adam Bournazos, Reece A. Sophocleous, Frances J. Evesson, Angela Lek, Birgit Driemer, R. Bryan Sutton, Sandra T. Cooper

J Biol Chem. 2017 Nov 10; 292(45): 18577–18591. Published online 2017 Sep 13. doi: 10.1074/jbc.M117.790014

PMCID:: PMC5682967

Article PDF–4.0M

Select item 509128310.

Dysferlin mutations and mitochondrial dysfunction

Amy E. Vincent, Hannah S. Rosa, Charlotte L. Alston, John P. Grady, Karolina A. Rygiel, Mariana C. Rocha, Rita Barresi, Robert W. Taylor, Doug M. Turnbull

Neuromuscul Disord. 2016 Nov; 26(11): 782–788. doi: 10.1016/j.nmd.2016.08.008

PMCID:: PMC5091283

Article PDF–2.7M

Select item 504001311.

Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy

Su-Qin Jin, Meng Yu, Wei Zhang, He Lyu, Yun Yuan, Zhao-Xia Wang

Chin Med J (Engl) 2016 Oct 5; 129(19): 2287–2293. doi: 10.4103/0366-6999.190671

PMCID:: PMC5040013

Article PDF–1.5M

Select item 493817912.

Dysferlin Binds SNAREs (Soluble N-Ethylmaleimide-sensitive Factor (NSF) Attachment Protein Receptors) and Stimulates Membrane Fusion in a Calcium-sensitive Manner

Sara J. Codding, Naomi Marty, Nazish Abdullah, Colin P. Johnson

J Biol Chem. 2016 Jul 8; 291(28): 14575–14584. Published online 2016 May 10. doi: 10.1074/jbc.M116.727016

PMCID:: PMC4938179

Article PDF–1.4M

Select item 390721513.

Quantitation of the Calcium and Membrane Binding Properties of the C2 Domains of Dysferlin

Nazish Abdullah, Murugesh Padmanarayana, Naomi J. Marty, Colin P. Johnson

Biophys J. 2014 Jan 21; 106(2): 382–389. doi: 10.1016/j.bpj.2013.11.4492

Correction in:: Biophys J. 2014 Apr 1; 106(7): 1548.

PMCID:: PMC3907215

Article PDF–1.3M

Select item 390023314.

Dysferlin overexpression in skeletal muscle produces a progressive myopathy

Louise E. Glover, Kimberly Newton, Gomathi Krishnan, Roderick Bronson, Alexandra Boyle, Lisa S. Krivickas, Robert H. Brown, Jr.

Ann Neurol. Author manuscript; available in PMC 2014 Jan 23.

Published in final edited form as: Ann Neurol. 2010 Mar; 67(3): 384–393. doi: 10.1002/ana.21926

PMCID:: PMC3900233

Article PDF–1.8M

Select item 389821015.

Crystal structures of the human Dysferlin inner DysF domain

Altin Sula, Ambrose R Cole, Corin Yeats, Christine Orengo, Nicholas H Keep

BMC Struct Biol. 2014; 14: 3. Published online 2014 Jan 17. doi: 10.1186/1472-6807-14-3

PMCID:: PMC3898210

Article PDF–2.4M

Select item 389181216.

Dysferlin and Other Non-Red Cell Proteins Accumulate in the Red Cell Membrane of Diamond-Blackfan Anemia Patients

Esther N. Pesciotta, Sira Sriswasdi, Hsin-Yao Tang, David W. Speicher, Philip J. Mason, Monica Bessler

PLoS One. 2014; 9(1): e85504. Published online 2014 Jan 14. doi: 10.1371/journal.pone.0085504

PMCID:: PMC3891812

Article PDF–4.2M

Select item 365627117.

Dysferlin Regulates Cell Adhesion in Human Monocytes

Antoine de Morrée, Bàrbara Flix, Ivana Bagaric, Jun Wang, Marlinde van den Boogaard, Laure Grand Moursel, Rune R. Frants, Isabel Illa, Eduard Gallardo, Rene Toes, Silvère M. van der Maarel

J Biol Chem. 2013 May 17; 288(20): 14147–14157. Published online 2013 Apr 4. doi: 10.1074/jbc.M112.448589

PMCID:: PMC3656271

Article PDF–2.9M

Select item 359514818.

Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B

Toshiaki Takahashi, Masashi Aoki, Naoki Suzuki, Maki Tateyama, Chikako Yaginuma, Hitomi Sato, Miho Hayasaka, Hitomi Sugawara, Mariko Ito, Emi Abe-Kondo, Naoko Shimakura, Tohru Ibi, Satoshi Kuru, Tadashi Wakayama, Gen Sobue, Naoki Fujii, Toshio Saito, Tsuyoshi Matsumura, Itaru Funakawa, Eiichiro Mukai, Toru Kawanami, Mitsuya Morita, Mineo Yamazaki, Takashi Hasegawa, Jun Shimizu, Shoji Tsuji, Shigeki Kuzuhara, Hiroyasu Tanaka, Masaru Yoshioka, Hidehiko Konno, Hiroshi Onodera, Yasuto Itoyama

J Neurol Neurosurg Psychiatry. 2013 Apr; 84(4): 433–440. Published online 2012 Dec 15. doi: 10.1136/jnnp-2011-301339

PMCID:: PMC3595148

Article PDF–215K

Select item 337611519.

Homologous Recombination Mediates Functional Recovery of Dysferlin Deficiency following AAV5 Gene Transfer

William E. Grose, K. Reed Clark, Danielle Griffin, Vinod Malik, Kimberly M. Shontz, Chrystal L. Montgomery, Sarah Lewis, Robert H. Brown, Jr., Paul M. L. Janssen, Jerry R. Mendell, Louise R. Rodino-Klapac

PLoS One. 2012; 7(6): e39233. Published online 2012 Jun 15. doi: 10.1371/journal.pone.0039233

PMCID:: PMC3376115

Article PDF–971K

Select item 324169820.

Comparison of Dysferlin Expression in Human Skeletal Muscle with That in Monocytes for the Diagnosis of Dysferlin Myopathy

Eduard Gallardo, Noemi de Luna, Jordi Diaz-Manera, Ricardo Rojas-García, Lidia Gonzalez-Quereda, Bàrbara Flix, Antoine de Morrée, Silvère van der Maarel, Isabel Illa

PLoS One. 2011; 6(12): e29061. Published online 2011 Dec 16. doi: 10.1371/journal.pone.0029061

PMCID:: PMC3241698

Article PDF–452K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 68

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity