Literature DB >> 28051071

Update on a previously reported male with a FLNA missense mutation.

Maie Walsh1, Geoffrey Hebbard2,3, Alison Trainer1.   

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Year:  2017        PMID： 28051071      PMCID： PMC5567143          DOI： 10.1038/ejhg.2016.156

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  9 in total

1.  Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and x-linked intestinal pseudo-obstruction.

Authors:  Raj P Kapur; Stephen P Robertson; Mark C Hannibal; Laura S Finn; Timothy Morgan; Margriet van Kogelenberg; David J Loren
Journal:  Am J Surg Pathol       Date:  2010-10       Impact factor: 6.394

2.  A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.

Authors:  U Hehr; A Hehr; G Uyanik; E Phelan; J Winkler; W Reardon
Journal:  J Med Genet       Date:  2005-11-18       Impact factor: 6.318

3.  Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

Authors:  E Parrini; A Ramazzotti; W B Dobyns; D Mei; F Moro; P Veggiotti; C Marini; E H Brilstra; B Dalla Bernardina; L Goodwin; A Bodell; M C Jones; M Nangeroni; S Palmeri; E Said; J W Sander; P Striano; Y Takahashi; L Van Maldergem; G Leonardi; M Wright; C A Walsh; R Guerrini
Journal:  Brain       Date:  2006-05-09       Impact factor: 13.501

4.  Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.

Authors:  Hirotsugu Oda; Tatsuhiro Sato; Shinji Kunishima; Kenji Nakagawa; Kazushi Izawa; Eitaro Hiejima; Tomoki Kawai; Takahiro Yasumi; Hiraku Doi; Kenji Katamura; Hironao Numabe; Shinya Okamoto; Hiroshi Nakase; Atsushi Hijikata; Osamu Ohara; Hidenori Suzuki; Hiroko Morisaki; Takayuki Morisaki; Hiroyuki Nunoi; Seisuke Hattori; Ryuta Nishikomori; Toshio Heike
Journal:  Eur J Hum Genet       Date:  2015-06-10       Impact factor: 4.246

5.  Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.

Authors:  V L Sheen; P H Dixon; J W Fox; S E Hong; L Kinton; S M Sisodiya; J S Duncan; F Dubeau; I E Scheffer; S C Schachter; A Wilner; R Henchy; P Crino; K Kamuro; F DiMario; M Berg; R Kuzniecky; A J Cole; E Bromfield; M Biber; D Schomer; J Wheless; K Silver; G H Mochida; S F Berkovic; F Andermann; E Andermann; W B Dobyns; N W Wood; C A Walsh
Journal:  Hum Mol Genet       Date:  2001-08-15       Impact factor: 6.150

6.  Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.

Authors:  Eyal Reinstein; Sophia Frentz; Tim Morgan; Sixto García-Miñaúr; Richard J Leventer; George McGillivray; Mitchel Pariani; Anthony van der Steen; Michael Pope; Muriel Holder-Espinasse; Richard Scott; Elizabeth M Thompson; Terry Robertson; Brian Coppin; Robert Siegel; Montserrat Bret Zurita; Jose I Rodríguez; Carmen Morales; Yuri Rodrigues; Joaquín Arcas; Anand Saggar; Margaret Horton; Elaine Zackai; John M Graham; David L Rimoin; Stephen P Robertson
Journal:  Eur J Hum Genet       Date:  2012-10-03       Impact factor: 4.246

7.  Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.

Authors:  R Guerrini; D Mei; S Sisodiya; F Sicca; B Harding; Y Takahashi; T Dorn; A Yoshida; J Campistol; G Krämer; F Moro; W B Dobyns; E Parrini
Journal:  Neurology       Date:  2004-07-13       Impact factor: 9.910

8.  Novel no-stop FLNA mutation causes multi-organ involvement in males.

Authors:  Renske Oegema; Jessie M Hulst; Sabine D M Theuns-Valks; Leontine M A van Unen; Rachel Schot; Grazia M S Mancini; Marguerite E I Schipper; Marie C Y de Wit; Barbara J Sibbles; Irenaeus F M de Coo; Veerle Nanninga; Robert M W Hofstra; Dicky J J Halley; Alice S Brooks
Journal:  Am J Med Genet A       Date:  2013-07-19       Impact factor: 2.802

9.  Filamin A mutation is one cause of FG syndrome.

Authors:  Sheila Unger; Anita Mainberger; Christian Spitz; Anna Bähr; Christine Zeschnigk; Bernhard Zabel; Andrea Superti-Furga; Deborah J Morris-Rosendahl
Journal:  Am J Med Genet A       Date:  2007-08-15       Impact factor: 2.802
  9 in total
  4 in total

1.  Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.

Authors:  Nida S Iqbal; Thomas A Jascur; Steven M Harrison; Angelena B Edwards; Luke T Smith; Erin S Choi; Michelle K Arevalo; Catherine Chen; Shaohua Zhang; Adam J Kern; Angela E Scheuerle; Emma J Sanchez; Chao Xing; Linda A Baker
Journal:  BMC Med Genet       Date:  2020-02-21       Impact factor: 2.103

2.  Filamin A Orchestrates Cytoskeletal Structure, Cell Migration and Stem Cell Characteristics in Human Seminoma TCam-2 Cells.

Authors:  Harald Welter; Carola Herrmann; Thomas Fröhlich; Florian Flenkenthaler; Katja Eubler; Hubert Schorle; Daniel Nettersheim; Artur Mayerhofer; Annette Müller-Taubenberger
Journal:  Cells       Date:  2020-11-30       Impact factor: 6.600

3.  Microhomology-Mediated Nonhomologous End Joining Caused Rearrangement of EMD and FLNA in Emery-Dreifuss Muscular Dystrophy.

Authors:  Danyu Song; Xiaomei Li; Wei Wei; Xueqin Liu; Lin Wu; Hui Xiong
Journal:  Front Genet       Date:  2021-12-17       Impact factor: 4.599

4.  Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.

Authors:  Salma Adham; Natalia Hernandez Poblete; Clarisse Billon; Anne Legrand; Michael Frank; Laurent Chiche; Stephane Zuily; Karelle Benistan; Laurent Savale; Khaoula Zaafrane-Khachnaoui; Anne-Claire Brehin; Laurence Bal; Tiffany Busa; Mélanie Fradin; Chloé Quelin; Bertrand Chesneau; Denis Wahl; Patricia Fergelot; Cyril Goizet; Tristan Mirault; Xavier Jeunemaitre; Juliette Albuisson
Journal:  Orphanet J Rare Dis       Date:  2021-12-04       Impact factor: 4.123
  4 in total

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