| Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature. | Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.
Mishra S, Nair KV, Shukla A. | 09/26/2023 |
| The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome. | The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.
Liao X, Wang Y, Lai X, Wang S., Free PMC Article | 09/8/2023 |
| The association between RAPSN methylation in peripheral blood and breast cancer in the Chinese population. | The association between RAPSN methylation in peripheral blood and breast cancer in the Chinese population.
Lei S, Li L, Yang X, Yin Q, Xu T, Zhou W, Gu W, Ma F, Yang R. | 02/12/2022 |
| Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation. | Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation.
Xing G, Jing H, Yu Z, Chen P, Wang H, Xiong WC, Mei L., Free PMC Article | 07/24/2021 |
| In investigating how N88K missense mutation in Rapsn impairs the neuromuscular junction, the authors uncovered a novel signaling pathway by which Agrin-LRP4-MuSK induces tyrosine phosphorylation of Rapsn, which is required for its self-association and E3 ligase activity. | A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndrome.
Xing G, Jing H, Zhang L, Cao Y, Li L, Zhao K, Dong Z, Chen W, Wang H, Cao R, Xiong WC, Mei L., Free PMC Article | 02/1/2020 |
| Report attributes the RAPSN mutation c.484G > A, identified in a homozygous state, to causing fetal akinesia deformation sequence. | Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence.
Winters L, Van Hoof E, De Catte L, Van Den Bogaert K, de Ravel T, De Waele L, Corveleyn A, Breckpot J. | 03/31/2018 |
| Mutations in RAPSN and COLQ are the most common causes of congenital myasthenic syndrome in Israel. | Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.
Aharoni S, Sadeh M, Shapira Y, Edvardson S, Daana M, Dor-Wollman T, Mimouni-Bloch A, Halevy A, Cohen R, Sagie L, Argov Z, Rabie M, Spiegel R, Chervinsky I, Orenstein N, Engel AG, Nevo Y., Free PMC Article | 02/17/2018 |
| Hypomethylation of CpG sites in RPTOR, MGRN1 and RAPSN in blood is associated with breast cancer. | DNA methylation array analysis identifies breast cancer associated RPTOR, MGRN1 and RAPSN hypomethylation in peripheral blood DNA.
Tang Q, Holland-Letz T, Slynko A, Cuk K, Marme F, Schott S, Heil J, Qu B, Golatta M, Bewerunge-Hudler M, Sutter C, Surowy H, Wappenschmidt B, Schmutzler R, Hoth M, Bugert P, Bartram CR, Sohn C, Schneeweiss A, Yang R, Burwinkel B., Free PMC Article | 02/10/2018 |
| These findings uncover a new link between rapsyn, lysosome positioning, exocytosis and plasma membrane integrity. | Failure of lysosome clustering and positioning in the juxtanuclear region in cells deficient in rapsyn.
Aittaleb M, Chen PJ, Akaaboune M., Free PMC Article | 08/27/2016 |
| Two siblings affected with typical congenital myasthenic syndrome harbor the common heterozygous (-38A-G) E-box mutation associated with a previously unreported heterozygous p.224 insT, causing an insertion of threonine in the TPR6 domain. | A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.
Leshinsky-Silver E, Shapira D, Yosovitz K, Ginsberg M, Lerman-Sagie T, Lev D. | 01/26/2013 |
| a mutation of the RAPSN gene may have a role in development of congenital myasthenic syndrome after general anaesthesia [case report] | Diagnosis of congenital myasthenic syndrome with mutation of the RAPSN gene after general anaesthesia.
Gentili A, Ansaloni S, Morello W, Cecini MT, Cordelli DM, Baroncini S. | 01/7/2012 |
| Investigation of mutations in RAPSN determines that patients with congenital myasthenic syndrome can be misdiagnosed with seronegative myasthenia gravis. | Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.
Alseth EH, Maniaol AH, Elsais A, Nakkestad HL, Tallaksen C, Gilhus NE, Skeie GO. | 05/21/2011 |
| An allelic quantification on patient's DNA identified three novel multi-exon deletions of RAPSN. | Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing.
Gaudon K, Pénisson-Besnier I, Chabrol B, Bouhour F, Demay L, Ben Ammar A, Bauché S, Vial C, Nicolas G, Eymard B, Hantaï D, Richard P. | 03/5/2011 |
| nAChR mobility in plasma membranes of myoblast cells during their differentiation to myotubes in the presence and absence of rapsyn | Acetylcholine receptor organization in membrane domains in muscle cells: evidence for rapsyn-independent and rapsyn-dependent mechanisms.
Piguet J, Schreiter C, Segura JM, Vogel H, Hovius R., Free PMC Article | 02/5/2011 |
| All but 1 patient presented early in life and most responded to cholinergic agonists. With early diagnosis and therapy, rapsyn deficiency has a benign course in most patients. | Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.
Milone M, Shen XM, Selcen D, Ohno K, Brengman J, Iannaccone ST, Harper CM, Engel AG., Free PMC Article | 01/21/2010 |
| No CHRNA1, CHRNB1, or CHRND mutations were detected, but a homozygous RAPSN frameshift mutation, c.1177-1178delAA, was identified in a family with three children affected with lethal fetal akinesia sequence. | Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
Vogt J, Harrison BJ, Spearman H, Cossins J, Vermeer S, ten Cate LN, Morgan NV, Beeson D, Maher ER., Free PMC Article | 01/21/2010 |
| Twenty patients with the recessive form of congenital myasthenic syndrome with no mutations in the AChR subunit have been tested for this gene; five patients have been found to carry mutations. | Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.
Richard P, Gaudon K, Andreux F, Yasaki E, Prioleau C, Bauché S, Barois A, Ioos C, Mayer M, Routon MC, Mokhtari M, Leroy JP, Fournier E, Hainque B, Koenig J, Fardeau M, Eymard B, Hantaï D., Free PMC Article | 01/21/2010 |
| Four patients from four different families with RAPSN mutations and congenital myasthenic syndrome | Identification of pathogenic mutations in the human rapsyn gene.
Dunne V, Maselli RA. | 01/21/2010 |
| E-box mutations in the RAPSN promoter region may have a role in congenital myasthenic syndrome | E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.
Ohno K, Sadeh M, Blatt I, Brengman JM, Engel AG. | 01/21/2010 |
| recombination events may have occurred within the rapsyn gene and that this may have implications in the phenotypic expression of postsynaptic congenital myasthenic syndrome | Common founder effect of rapsyn N88K studied using intragenic markers.
Dunne V, Maselli RA. | 01/21/2010 |
| Rapsyn is essential for clustering the acetylcholine receptor at the postsynaptic membrane of the neuromuscular junction. | Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.
Banwell BL, Ohno K, Sieb JP, Engel AG. | 01/21/2010 |
| Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome | Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.
Ohno K, Engel AG, Shen XM, Selcen D, Brengman J, Harper CM, Tsujino A, Milone M., Free PMC Article | 01/21/2010 |
| The patient presents with an early onset sporadic congenital myasthenic syndrome was found The mutation RAPSN N88K was found heterozygously to a large deletion of about 4.5 kb disrupting the RAPSN gene. | A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.
Müller JS, Abicht A, Christen HJ, Stucka R, Schara U, Mortier W, Huebner A, Lochmüller H. | 01/21/2010 |
| These results provide the first experimental evidence that rapsyn is a direct sequence-specific target of Kaiso and delta-catenin. | Regulation of the rapsyn promoter by kaiso and delta-catenin.
Rodova M, Kelly KF, VanSaun M, Daniel JM, Werle MJ., Free PMC Article | 01/21/2010 |
| Screening for the common mutation RAPSN N88K facilitates targeted genetic analysis in congenital myasthenic syndromes. | Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.
Müller JS, Baumeister SK, Rasic VM, Krause S, Todorovic S, Kugler K, Müller-Felber W, Abicht A, Lochmüller H. | 01/21/2010 |