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For: Moreno CA, Sobreira N, Pugh E, Zhang P, Steel G, Torres FR, Cavalcanti DP. Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome. Eur J Hum Genet 2018;26:669-75. [PMID: 29453416 DOI: 10.1038/s41431-017-0055-5] [Cited by in Crossref: 18] [Cited by in F6Publishing: 15] [Article Influence: 4.5] [Reference Citation Analysis]
Number Citing Articles
1 Sun J, Qiao YN, Tao T, Zhao W, Wei LS, Li YQ, Wang W, Wang Y, Zhou YW, Zheng YY, Chen X, Pan HC, Zhang XN, Zhu MS. Distinct Roles of Smooth Muscle and Non-muscle Myosin Light Chain-Mediated Smooth Muscle Contraction. Front Physiol 2020;11:593966. [PMID: 33424621 DOI: 10.3389/fphys.2020.593966] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
2 Matera I, Bordo D, Di Duca M, Lerone M, Santamaria G, Pongiglione M, Lezo A, Diamanti A, Spagnuolo MI, Pini Prato A, Alberti D, Mattioli G, Gandullia P, Ceccherini I. Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction. Clin Genet 2021;99:430-6. [PMID: 33294969 DOI: 10.1111/cge.13895] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
3 Kapitansky O, Sragovich S, Jaljuli I, Hadar A, Giladi E, Gozes I. Age and Sex-Dependent ADNP Regulation of Muscle Gene Expression Is Correlated with Motor Behavior: Possible Feedback Mechanism with PACAP. Int J Mol Sci 2020;21:E6715. [PMID: 32937737 DOI: 10.3390/ijms21186715] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
4 Kloth K, Renner S, Burmester G, Steinemann D, Pabst B, Lorenz B, Simon R, Kolbe V, Hempel M, Rosenberger G. 16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome. Clin Genet 2019;96:85-90. [DOI: 10.1111/cge.13557] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
5 Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Bagłaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO, Posey JE, Lupski JR, Beaudet AL, Wangler MF; Baylor-Hopkins Center for Mendelian Genomics. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat 2020;41:641-54. [PMID: 31769566 DOI: 10.1002/humu.23960] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 3.0] [Reference Citation Analysis]
6 Wang Q, Zhang J, Wang H, Feng Q, Luo F, Xie J. Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family. J Hum Genet 2019;64:1067-73. [PMID: 31427716 DOI: 10.1038/s10038-019-0651-z] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
7 Gilbert MA, Schultz-Rogers L, Rajagopalan R, Grochowski CM, Wilkins BJ, Biswas S, Conlin LK, Fiorino KN, Dhamija R, Pack MA, Klee EW, Piccoli DA, Spinner NB. Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease. Hum Mutat 2020;41:973-82. [PMID: 31944481 DOI: 10.1002/humu.23986] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
8 Liu K, Lu L, Chen S, Gu B, Cai H, Wang Y, Cai W. Loss-of-function variants within LMOD1 actin-binding site 2 cause pediatric intestinal pseudo-obstruction by impairing protein stability and actin nucleation. FASEB J 2022;36:e22194. [PMID: 35170814 DOI: 10.1096/fj.202101395R] [Reference Citation Analysis]
9 Prathapan KM, King DE, Raghu VK, Ackerman K, Presel T, Yaworski JA, Ganoza A, Bond G, Sevilla WMA, Rudolph JA, Alissa F. Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: A Case Series With Long-term Follow-up and Prolonged Survival. J Pediatr Gastroenterol Nutr 2021;72:e81-5. [PMID: 33264186 DOI: 10.1097/MPG.0000000000003008] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
10 Hashmi SK, Ceron RH, Heuckeroth RO. Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton. Am J Physiol Gastrointest Liver Physiol 2021;320:G919-35. [PMID: 33729000 DOI: 10.1152/ajpgi.00066.2021] [Cited by in Crossref: 7] [Cited by in F6Publishing: 1] [Article Influence: 7.0] [Reference Citation Analysis]
11 Wang H, Zhu H, Zhu W, Xu Y, Wang N, Han B, Song H, Qiao J. Bioinformatic Analysis Identifies Potential Key Genes in the Pathogenesis of Turner Syndrome. Front Endocrinol (Lausanne) 2020;11:104. [PMID: 32210915 DOI: 10.3389/fendo.2020.00104] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 4.0] [Reference Citation Analysis]
12 Billon C, Molin A, Poirsier C, Clemenson A, Dauge C, Grelet M, Sigaudy S, Patrier S, Goldenberg A, Layet V, Tantau J, Fleury C, Liard A, Diguet A, Fritih R, Verspyck E, Rendu J, Boutaud L, Tessier A, Thomas S, Razavi F, Achaiaa A, Elkhartoufi N, Hakkakian L, Magnin E, Bôle-Feysot C, Masson C, Ville Y, Roth P, Prieur F, Bessieres B, Bonniere M, Attie-Bitach T. Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene. Clin Genet 2020;98:261-73. [PMID: 32621347 DOI: 10.1111/cge.13801] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
13 Kandler JL, Sklirou E, Woerner A, Walsh L, Cox E, Xue Y. Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome. Mol Genet Genomic Med 2020;8:e1516. [PMID: 33031641 DOI: 10.1002/mgg3.1516] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
14 Beaman GM, Galatà G, Teik KW, Urquhart JE, Aishah A, O'Sullivan J, Bhaskar SS, Wood KA, Thomas HB, O'Keefe RT, Woolf AS, Stuart HM, Newman WG. A homozygous missense variant in CHRM3 associated with familial urinary bladder disease. Clin Genet 2019;96:515-20. [PMID: 31441039 DOI: 10.1111/cge.13631] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
15 Gamboa HE, Sood M. Pediatric Intestinal Pseudo-obstruction in the Era of Genetic Sequencing. Curr Gastroenterol Rep 2019;21. [DOI: 10.1007/s11894-019-0737-y] [Cited by in Crossref: 5] [Cited by in F6Publishing: 2] [Article Influence: 1.7] [Reference Citation Analysis]
16 Dong W, Baldwin C, Choi J, Milunsky JM, Zhang J, Bilguvar K, Lifton RP, Milunsky A. Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing. Clin Genet 2019;96:473-7. [PMID: 31389005 DOI: 10.1111/cge.13617] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 2.7] [Reference Citation Analysis]