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 *

141 related articles for article (PubMed ID: 32814715)

  • 1. Pseudo-obstruction-inducing ACTG2R257C alters actin organization and function.
    Hashmi SK; Barka V; Yang C; Schneider S; Svitkina TM; Heuckeroth RO
    JCI Insight; 2020 Aug; 5(16):. PubMed ID: 32814715
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Recurrent ACTG2 gene variation in African degenerative visceral leiomyopathy.
    Maluleke T; Mangray H; Arnold M; Moore HA; Moore SW
    Pediatr Surg Int; 2019 Apr; 35(4):439-442. PubMed ID: 30430282
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Patient's dermal fibroblasts as disease markers for visceral myopathy.
    Viti F; Pramotton FM; Martufi M; Magrassi R; Pedemonte N; Nizzari M; Zanacchi FC; De Michele B; Alampi M; Zambito M; Santamaria G; Bajetto A; Sardar S; Tomati V; Gandullia P; Giampietro C; Florio T; Beltrame F; Vassalli M; Ceccherini I
    Biomater Adv; 2023 May; 148():213355. PubMed ID: 36893487
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
    Halim D; Wilson MP; Oliver D; Brosens E; Verheij JB; Han Y; Nanda V; Lyu Q; Doukas M; Stoop H; Brouwer RW; van IJcken WF; Slivano OJ; Burns AJ; Christie CK; de Mesy Bentley KL; Brooks AS; Tibboel D; Xu S; Jin ZG; Djuwantono T; Yan W; Alves MM; Hofstra RM; Miano JM
    Proc Natl Acad Sci U S A; 2017 Mar; 114(13):E2739-E2747. PubMed ID: 28292896
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. Histopathological, Ultrastructural, and Immunohistochemical Findings in
    Kapur RP
    Pediatr Dev Pathol; 2023; 26(1):39-51. PubMed ID: 36571289
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction.
    Holla OL; Bock G; Busk OL; Isfoss BL
    Endoscopy; 2014 Jun; 46(6):533-7. PubMed ID: 24777424
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Is Hirschsprung disease a purely neurological condition? A study of the Actin G2 smooth muscle gene in Hirschsprung disease.
    Moore SW; Maluleke T; El Hosny AA
    J Pediatr Surg; 2019 Oct; 54(10):2028-2031. PubMed ID: 30885557
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.