| Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects. | Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.
Karimi E, Gohlke J, van der Borgh M, Lindqvist J, Hourani Z, Kolb J, Cossette S, Lawlor MW, Ottenheijm C, Granzier H., Free PMC Article | 05/2/2024 |
| Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies. | Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.
Jackson M, Thomas MA, Suchet I, Mahallati H, Kuret V, Lauzon J. | 04/16/2024 |
| Variants in NEB and RIF1 genes on chr2q23 are associated with skeletal muscle index in Koreans: genome-wide association study. | Variants in NEB and RIF1 genes on chr2q23 are associated with skeletal muscle index in Koreans: genome-wide association study.
Yoon KJ, Yi Y, Do JG, Kim HL, Lee YT, Kim HN., Free PMC Article | 09/18/2021 |
| Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy. | Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy.
Wang Q, Hu Z, Chang X, Yu M, Xie Z, Lv H, Zhang W, Xiong H, Yuan Y, Wang Z. | 06/5/2021 |
| A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review. | A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review.
Wen Q, Chang X, Guo J. | 06/5/2021 |
| An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene. | An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene.
Ma Y, Zhang H, Li X, Yang X, Li Y, Guan J, Lv Y, Gai Z, Liu Y. | 01/23/2021 |
| Bioinformatics Analysis and High-Throughput Sequencing to Identify Differentially Expressed Genes in Nebulin Gene (NEB) Mutations Mice. | Bioinformatics Analysis and High-Throughput Sequencing to Identify Differentially Expressed Genes in Nebulin Gene (NEB) Mutations Mice.
Wang H, Nie X, Li X, Fang Y, Wang D, Wang W, Hu Y, Liu Z, Cao C., Free PMC Article | 01/23/2021 |
| nebulin containing exon 144 is the default isoform early in myogenesis, while regulated expression of nebulin containing exon 143 occurs at later stages of muscle development | Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation.
Lam LT, Holt I, Laitila J, Hanif M, Pelin K, Wallgren-Pettersson C, Sewry CA, Morris GE., Free PMC Article | 11/23/2019 |
| Genes associated with Nemaline Myopathy were sequenced. Four mutations in NEB (c.17779_17780delTA, c.11086A>C, c.21076C>T and c.2310+5G>A) and one mutation in ACTA1 (c.871A>T) were found in four patients. Three of the four mutations in NEB were novel. A cDNA sequencing assay of the novel variants c.17779_17780delTA, c.11086A>C and c.2310+5G>A revealed that the intronic variant c.2310+5G>A affected the splicing process. | New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.
Moreau-Le Lan S, Aller E, Calabria I, Gonzalez-Tarancon L, Cardona-Gay C, Martinez-Matilla M, Aparisi MJ, Selles J, Sagath L, Pitarch I, Muelas N, Cervera JV, Millan JM, Pedrola L., Free PMC Article | 05/11/2019 |
| NEB gene should be included in genetic panels for fetal akinesia/arthrogryposis multiplex congenital cases. | Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.
Feingold-Zadok M, Chitayat D, Chong K, Injeyan M, Shannon P, Chapmann D, Maymon R, Pillar N, Reish O. | 09/30/2017 |
| We examined a Chinese strabismus pedigree with the parents unaffected and 2 offspring affected. Whole-exome sequencing and bioinformatics filtering identified 2 variants including Abelson helper integration site 1 (AHI1) gene and nebulin (NEB) gene. c.A914G mutation was found in nebulin (NEB) gene. | Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing.
Min X, Fan H, Zhao G, Liu G., Free PMC Article | 07/1/2017 |
| Shorter than normal thin filament length contributes to the impaired force generation in patients with thin filament myopathy, but only in those who harbor specific mutations in NEB or ACTA1. | Mutation-specific effects on thin filament length in thin filament myopathy.
Winter JM, Joureau B, Lee EJ, Kiss B, Yuen M, Gupta VA, Pappas CT, Gregorio CC, Stienen GJ, Edvardson S, Wallgren-Pettersson C, Lehtokari VL, Pelin K, Malfatti E, Romero NB, Engelen BG, Voermans NC, Donkervoort S, Bönnemann CG, Clarke NF, Beggs AH, Granzier H, Ottenheijm CA., Free PMC Article | 06/10/2017 |
| New NEB mutations were found in 8 of 10 patients with nemaline myopathy. | New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.
Piga D, Magri F, Ronchi D, Corti S, Cassandrini D, Mercuri E, Tasca G, Bertini E, Fattori F, Toscano A, Messina S, Moroni I, Mora M, Moggio M, Colombo I, Giugliano T, Pane M, Fiorillo C, D'Amico A, Bruno C, Nigro V, Bresolin N, Comi GP. | 03/18/2017 |
| recurrent NEB TRI copy number variation was found in 13% of the families with nemaline myopathy and in 10% of the controls. | A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.
Kiiski K, Lehtokari VL, Löytynoja A, Ahlstén L, Laitila J, Wallgren-Pettersson C, Pelin K., Free PMC Article | 12/17/2016 |
| Prominent foot-drop was associated with NEB gene mutations in three patients with core-rod myopathy. | Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.
Malfatti E, Monges S, Lehtokari VL, Schaeffer U, Abath Neto O, Kiiski K, Lubieniecki F, Taratuto AL, Wallgren-Pettersson C, Laporte J, Romero NB. | 08/20/2016 |
| Identified two novel, compound-heterozygous variants in the nebulin gene after a 30 year clinical history, which cause a classical childhood type of nemaline myopathy. | Two novel nebulin variants in an adult patient with congenital nemaline myopathy.
Güttsches AK, Dekomien G, Claeys KG, von der Hagen M, Huebner A, Kley RA, Kirschner J, Vorgerd M. | 01/16/2016 |
| Since the patients are characterized by generalized muscle weakness together with neurodevelopmental phenotypes, it is suggested that NEB mutations could manifest more diverse phenotypes than those previously described. | Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.
Jin HS, Lee JB, Kim K, Lee KY, Choi VN, Kim JS, Jeong SY, Yim SY. | 08/22/2015 |
| indicates that nebulin tolerates substantial changes in its amino acid sequence, providing an explanation as to why variants in such a large gene result in relatively rare disorders | Mutation update: the spectra of nebulin variants and associated myopathies.
Lehtokari VL, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs AH, Clarke NF, North KN, Laing NG, Romero NB, Winder TL, Pelin K, Wallgren-Pettersson C., Free PMC Article | 07/25/2015 |
| Mutations in NEB gene is associated with stress fracture. | Novel candidate genes putatively involved in stress fracture predisposition detected by whole-exome sequencing.
Friedman E, Moran DS, Ben-Avraham D, Yanovich R, Atzmon G., Free PMC Article | 04/11/2015 |
| This study demonistrated that Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity. | Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
Malfatti E, Lehtokari VL, Böhm J, De Winter JM, Schäffer U, Estournet B, Quijano-Roy S, Monges S, Lubieniecki F, Bellance R, Viou MT, Madelaine A, Wu B, Taratuto AL, Eymard B, Pelin K, Fardeau M, Ottenheijm CA, Wallgren-Pettersson C, Laporte J, Romero NB., Free PMC Article | 12/20/2014 |
| We identify the SH3 domains of nebulin and nebulette as novel ligands of proline-rich regions of Xin and XIRP2 | Identification of Xin-repeat proteins as novel ligands of the SH3 domains of nebulin and nebulette and analysis of their interaction during myofibril formation and remodeling.
Eulitz S, Sauer F, Pelissier MC, Boisguerin P, Molt S, Schuld J, Orfanos Z, Kley RA, Volkmer R, Wilmanns M, Kirfel G, van der Ven PF, Fürst DO., Free PMC Article | 05/10/2014 |
| Data suggest that for some filament-forming desmin mutants, the molecular etiology of desminopathy results from subtle deficiencies in their association with nebulin, a major actin-binding filament protein of striated muscle. | Nebulin binding impedes mutant desmin filament assembly.
Baker LK, Gillis DC, Sharma S, Ambrus A, Herrmann H, Conover GM., Free PMC Article | 01/18/2014 |
| A nebulin-based nemaline myopathy model is characterized in transgenic mice following deletion of exon 55 in nebulin. | Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.
Ottenheijm CA, Buck D, de Winter JM, Ferrara C, Piroddi N, Tesi C, Jasper JR, Malik FI, Meng H, Stienen GJ, Beggs AH, Labeit S, Poggesi C, Lawlor MW, Granzier H., Free PMC Article | 08/10/2013 |
| Multiple isoforms of nebulin expressed in skeletal muscle and brain may have a role as actin filament stabilizer or length regulator in neurons of the human brain | Expression of multiple nebulin isoforms in human skeletal muscle and brain.
Laitila J, Hanif M, Paetau A, Hujanen S, Keto J, Somervuo P, Huovinen S, Udd B, Wallgren-Pettersson C, Auvinen P, Hackman P, Pelin K. | 12/22/2012 |
| Ultrasonographic findings suggestive of a myopathy and a carrier state for the NEB exon 55 deletion in one of the parents should trigger a thorough investigation for nemaline. | Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.
Yonath H, Reznik-Wolf H, Berkenstadt M, Eisenberg-Barzilai S, Lehtokari VL, Wallgren-Pettersson C, Mehta L, Achiron R, Gilboa Y, Polak-Charcon S, Winder T, Frydman M, Pras E. | 07/14/2012 |