BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 34980693)

  • 1.
    Hahn JW; Moon SY; Kim MS; Woo MH; Sohn MJ; Kim HY; Seong MW; Park SS; Park SH; Moon JS; Ko JS
    J Neurogastroenterol Motil; 2022 Jan; 28(1):104-110. PubMed ID: 34980693
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Visceral myopathy diagnosed by a de novo
    Xiong X; Li J; Liu C; Xu F
    Transl Pediatr; 2021 Mar; 10(3):679-685. PubMed ID: 33880338
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
    Whittington JR; Poole AT; Dutta EH; Munn MB
    Case Rep Genet; 2017; 2017():9146507. PubMed ID: 29387497
    [No Abstract]   [Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.
    Lehtonen HJ; Sipponen T; Tojkander S; Karikoski R; Järvinen H; Laing NG; Lappalainen P; Aaltonen LA; Tuupanen S
    Gastroenterology; 2012 Dec; 143(6):1482-1491.e3. PubMed ID: 22960657
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Heterozygous Actg2
    Cai H; Xiao Y; Chen S; Lu Y; Du J; You Y; Zhu J; Zhou J; Cai W; Wang Y
    Neurogastroenterol Motil; 2023 Jan; 35(1):e14472. PubMed ID: 36264152
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome.
    Geraghty RM; Orr S; Olinger E; Neatu R; Barroso-Gil M; Mabillard H; Consortium GER; Wilson I; Sayer JA
    J Rare Dis (Berlin); 2023; 2(1):9. PubMed ID: 37288276
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers.
    Mori M; Clause AR; Truxal K; Hagelstrom RT; Manickam K; Kaler SG; Prasad V; Windster J; Alves MM; Di Lorenzo C
    JPGN Rep; 2022 Nov; 3(4):e258. PubMed ID: 37168481
    [TBL] [Abstract][Full Text] [Related]  

  • 16. ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation.
    Collins RRJ; Barth B; Megison S; Pfeifer CM; Rice LM; Harris S; Timmons CF; Rakheja D
    Int J Surg Pathol; 2019 Feb; 27(1):77-83. PubMed ID: 30019982
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Variants in the Enteric Smooth Muscle Actin γ-2 Cause Pediatric Intestinal Pseudo-obstruction in Chinese Patients.
    Wei Z; Lu L; Zheng Y; Yan W; Tao Y; Xiao Y; Cai W; Wang Y
    J Pediatr Gastroenterol Nutr; 2021 Jan; 72(1):36-42. PubMed ID: 32810037
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Smooth muscle motility disorder phenotypes: A systematic review of cases associated with seven pathogenic genes (
    Fournier N; Fabre A
    Intractable Rare Dis Res; 2022 Aug; 11(3):113-119. PubMed ID: 36200034
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

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

    [Next]    [New Search]
    of 10.