These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

203 related articles for article (PubMed ID: 31769566)

  • 1. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
    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
    Hum Mutat; 2020 Mar; 41(3):641-654. PubMed ID: 31769566
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
    Wangler MF; Gonzaga-Jauregui C; Gambin T; Penney S; Moss T; Chopra A; Probst FJ; Xia F; Yang Y; Werlin S; Eglite I; Kornejeva L; Bacino CA; Baldridge D; Neul J; Lehman EL; Larson A; Beuten J; Muzny DM; Jhangiani S; ; Gibbs RA; Lupski JR; Beaudet A
    PLoS Genet; 2014 Mar; 10(3):e1004258. PubMed ID: 24676022
    [TBL] [Abstract][Full Text] [Related]  

  • 3. New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).
    Tuzovic L; Tang S; Miller RS; Rohena L; Shahmirzadi L; Gonzalez K; Li X; LeDuc CA; Guo J; Wilson A; Mills A; Glassberg K; Rotterdam H; Sepulveda AR; Zeng W; Chung WK; Anyane-Yeboa K
    Fetal Diagn Ther; 2015; 38(4):296-306. PubMed ID: 25998219
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.
    Matera I; Rusmini M; Guo Y; Lerone M; Li J; Zhang J; Di Duca M; Nozza P; Mosconi M; Pini Prato A; Martucciello G; Barabino A; Morandi F; De Giorgio R; Stanghellini V; Ravazzolo R; Devoto M; Hakonarson H; Ceccherini I
    Eur J Hum Genet; 2016 Aug; 24(8):1211-5. PubMed ID: 26813947
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.
    Moreno CA; Metze K; Lomazi EA; Bertola DR; Barbosa RH; Cosentino V; Sobreira N; Cavalcanti DP
    Am J Med Genet A; 2016 Nov; 170(11):2965-2974. PubMed ID: 27481187
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.
    Ravenscroft G; Pannell S; O'Grady G; Ong R; Ee HC; Faiz F; Marns L; Goel H; Kumarasinghe P; Sollis E; Sivadorai P; Wilson M; Magoffin A; Nightingale S; Freckmann ML; Kirk EP; Sachdev R; Lemberg DA; Delatycki MB; Kamm MA; Basnayake C; Lamont PJ; Amor DJ; Jones K; Schilperoort J; Davis MR; Laing NG
    Neurogastroenterol Motil; 2018 Sep; 30(9):e13371. PubMed ID: 29781137
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction.
    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
    Clin Genet; 2021 Mar; 99(3):430-436. PubMed ID: 33294969
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Gene Mutation was Detected: A Case Report.
    Korğalı EÜ; Yavuz A; Şimşek CEÇ; Güney C; Kurtulgan HK; Başer B; Atalar MH; Özer H; Eğilmez HR
    Fetal Pediatr Pathol; 2018 Apr; 37(2):109-116. PubMed ID: 29608093
    [TBL] [Abstract][Full Text] [Related]  

  • 9. De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.
    Thorson W; Diaz-Horta O; Foster J; Spiliopoulos M; Quintero R; Farooq A; Blanton S; Tekin M
    Hum Genet; 2014 Jun; 133(6):737-42. PubMed ID: 24337657
    [TBL] [Abstract][Full Text] [Related]  

  • 10. ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
    Halim D; Hofstra RM; Signorile L; Verdijk RM; van der Werf CS; Sribudiani Y; Brouwer RW; van IJcken WF; Dahl N; Verheij JB; Baumann C; Kerner J; van Bever Y; Galjart N; Wijnen RM; Tibboel D; Burns AJ; Muller F; Brooks AS; Alves MM
    Hum Mol Genet; 2016 Feb; 25(3):571-83. PubMed ID: 26647307
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
    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
    Clin Genet; 2020 Sep; 98(3):261-273. PubMed ID: 32621347
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders.
    Sandy NS; Huysentruyt K; Mulder DJ; Warner N; Chong K; Morel C; AlQahtani S; Wales PW; Martin MG; Muise AM; Avitzur Y
    J Pediatr Gastroenterol Nutr; 2022 May; 74(5):575-581. PubMed ID: 35149643
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutation in Actin γ-2 Responsible for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in 4 Chinese Patients.
    Lu W; Xiao Y; Huang J; Tao Y; Yan W; Lu L; Cao Y; Cai W
    J Pediatr Gastroenterol Nutr; 2016 Dec; 63(6):624-626. PubMed ID: 27007401
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Intestinal Pathology in Patients With Pathogenic
    Kapur RP; Goldstein AM; Loeff DS; Myers CT; Paschal CR
    Pediatr Dev Pathol; 2022; 25(6):581-597. PubMed ID: 35695198
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.
    Klar J; Raykova D; Gustafson E; Tóthová I; Ameur A; Wanders A; Dahl N
    Eur J Hum Genet; 2015 Dec; 23(12):1679-83. PubMed ID: 25782675
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Expanding the genotypic spectrum of
    James KN; Lau M; Shayan K; Lenberg J; Mardach R; Ignacio R; Halbach J; Choi L; Kumar S; Ellsworth KA
    Cold Spring Harb Mol Case Stud; 2021 Jun; 7(3):. PubMed ID: 33883208
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family.
    Wang Q; Zhang J; Wang H; Feng Q; Luo F; Xie J
    J Hum Genet; 2019 Nov; 64(11):1067-1073. PubMed ID: 31427716
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.
    Billon C; Piccoli GB; de Sainte Agathe JM; Stoeva R; Derive N; Heidet L; Berrebi D; Bruneval P; Jeunemaitre X; Hureaux M
    Mol Genet Genomics; 2024 Apr; 299(1):44. PubMed ID: 38625590
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene.
    Milunsky A; Baldwin C; Zhang X; Primack D; Curnow A; Milunsky J
    J Pediatr Gastroenterol Nutr; 2017 Oct; 65(4):384-387. PubMed ID: 28422808
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.