Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.

Animals Cilia / pathology Ciliary Motility Disorders / genetics Disease Models, Animal Exons / genetics Female Gene Deletion Genes, Lethal Humans Male Mice Mice, Knockout Microfilament Proteins / deficiency Microtubule-Associated Proteins / deficiency Phenotype Rotation Xenopus / embryology Xenopus Proteins / deficiency
GAS2L2 MCC PCD ciliary orientation mucociliary clearance primary ciliary dyskinesia

Journal

American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475

Informations de publication

Date de publication:
07 02 2019
Historique:
received: 20 08 2018
accepted: 14 12 2018
pubmed: 23 1 2019
medline: 20 11 2019
entrez: 23 1 2019
Statut: ppublish

Résumé

Primary ciliary dyskinesia (PCD) is a genetic disorder in which impaired ciliary function leads to chronic airway disease. Exome sequencing of a PCD subject identified an apparent homozygous frameshift variant, c.887_890delTAAG (p.Val296Glyfs

Identifiants

DOI: 10.1016/j.ajhg.2018.12.009 PMID: 30665704 PMC: PMC6372263
pubmed: 30665704
pii: S0002-9297(18)30460-9
doi: 10.1016/j.ajhg.2018.12.009
pmc: PMC6372263
pii:
doi:

Substances chimiques

GAS2L2 protein, human 0
Gas2l2 protein, mouse 0
Microfilament Proteins 0
Microtubule-Associated Proteins 0
Xenopus Proteins 0
gas2l2 protein, Xenopus 0

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

229-245

Subventions

Organisme : NHLBI NIH HHS
ID : R01 HL117836
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA016086
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL071798
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG006504
Pays : United States
Organisme : NHGRI NIH HHS
ID : U54 HG006493
Pays : United States
Organisme : NIH HHS
ID : S10 OD018521
Pays : United States
Organisme : NHLBI NIH HHS
ID : HHSN268201100037C
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR000083
Pays : United States
Organisme : NHLBI NIH HHS
ID : U54 HL096458
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM089970
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG006493
Pays : United States
Organisme : NIDDK NIH HHS
ID : P30 DK065988
Pays : United States
Organisme : NHLBI NIH HHS
ID : UC2 HL102926
Pays : United States
Organisme : NHLBI NIH HHS
ID : RC2 HL102926
Pays : United States

Informations de copyright

Copyright © 2018 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Références

Am J Respir Cell Mol Biol. 2010 Jul;43(1):55-63
pubmed: 19675306
Am J Physiol Lung Cell Mol Physiol. 2002 Dec;283(6):L1315-21
pubmed: 12388377
Methods Mol Biol. 2013;945:109-21
pubmed: 23097104
N Engl J Med. 1990 Dec 13;323(24):1681-4
pubmed: 2233964
Cold Spring Harb Perspect Biol. 2017 Apr 3;9(4):
pubmed: 27864314
Nat Commun. 2017 Feb 08;8:14279
pubmed: 28176794
Am J Hum Genet. 2016 Aug 4;99(2):489-500
pubmed: 27486783
J Proteome Res. 2017 Apr 7;16(4):1579-1592
pubmed: 28282151
Dev Cell. 2017 Jan 9;40(1):81-94
pubmed: 28017616
Cilia. 2016 Mar 14;5:13
pubmed: 26981235
Pediatr Pulmonol. 2013 Apr;48(4):352-63
pubmed: 22888088
Exp Hematol. 2009 May;37(5):539-548.e4
pubmed: 19375645
Ann Otol Rhinol Laryngol. 1998 Jan;107(1):40-6
pubmed: 9439387
Clin Chest Med. 2016 Sep;37(3):449-61
pubmed: 27514592
Am J Physiol Lung Cell Mol Physiol. 2016 May 1;310(9):L860-7
pubmed: 26968767
Am J Hum Genet. 2018 May 3;102(5):973-984
pubmed: 29727693
Nature. 2007 May 3;447(7140):97-101
pubmed: 17450123
Chest. 1992 Mar;101(3 Suppl):16S
pubmed: 1541186
Ann Am Thorac Soc. 2013 Dec;10(6):574-81
pubmed: 24024753
PLoS One. 2013 Aug 26;8(8):e72299
pubmed: 23991085
Gene Ther. 2014 Mar;21(3):253-61
pubmed: 24451115
Am J Hum Genet. 2013 Oct 3;93(4):711-20
pubmed: 24055112
PLoS One. 2009 Dec 31;4(12):e8491
pubmed: 20046828
Dev Biol. 2014 Oct 15;394(2):305-13
pubmed: 25131197
Methods Enzymol. 2013;525:191-217
pubmed: 23522471
Am J Respir Crit Care Med. 1999 Jul;160(1):144-9
pubmed: 10390392
Biochim Biophys Acta. 2013 Dec;1833(12):3145-3154
pubmed: 23994616
J Cell Sci. 2012 May 15;125(Pt 10):2393-406
pubmed: 22344256
Am J Hum Genet. 2018 Nov 1;103(5):727-739
pubmed: 30388400
Am J Respir Crit Care Med. 1996 Mar;153(3):1123-9
pubmed: 8630555
Pediatr Pulmonol. 2015 Dec;50(12):1374-82
pubmed: 25731630
Exp Mol Pathol. 2010 Apr;88(2):326-9
pubmed: 20045408
J Appl Physiol (1985). 2010 Jan;108(1):189-96
pubmed: 19797687
Sci Rep. 2016 Oct 13;6:34956
pubmed: 27734842
Curr Biol. 2012 Dec 4;22(23):2203-12
pubmed: 23122850
Eur Respir J. 2008 Sep;32(3):755-62
pubmed: 18417509
Am J Respir Cell Mol Biol. 2017 May;56(5):568-574
pubmed: 27983869
Dev Biol. 2002 Apr 15;244(2):305-18
pubmed: 11944939
Nat Methods. 2012 Jun 28;9(7):676-82
pubmed: 22743772
Indian J Otolaryngol Head Neck Surg. 2014 Jan;66(1):92-6
pubmed: 24605309
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Hum Mutat. 2008 Feb;29(2):289-98
pubmed: 18022865
J Allergy Clin Immunol. 2003 Sep;112(3):518-24
pubmed: 13679810
Curr Biol. 2012 Oct 9;22(19):1800-7
pubmed: 22885064
Neuroscience. 2014 Sep 26;277:552-67
pubmed: 25073043
Nat Commun. 2014 Sep 12;5:4888
pubmed: 25215410
Nature. 2011 Jun 15;474(7351):337-42
pubmed: 21677750
Am J Hum Genet. 2016 Aug 4;99(2):460-9
pubmed: 27486780
Cell. 1998 Dec 11;95(6):829-37
pubmed: 9865700
Genesis. 2014 Apr;52(4):350-8
pubmed: 24550157
J Cell Sci. 2003 Mar 15;116(Pt 6):1045-58
pubmed: 12584248
Thorax. 1993 Jul;48(7):770-1
pubmed: 8153929
Am J Hum Genet. 2017 Jan 5;100(1):160-168
pubmed: 28041644
J Vis Exp. 2013 Oct 08;(80):
pubmed: 24145828
Curr Top Dev Biol. 2008;85:1-22
pubmed: 19147000
Am J Physiol Lung Cell Mol Physiol. 2015 Jul 15;309(2):L99-108
pubmed: 25979076
Hum Mutat. 2017 Aug;38(8):964-969
pubmed: 28543983
Am J Physiol Cell Physiol. 2011 Apr;300(4):C723-42
pubmed: 21209361
EMBO J. 1995 Nov 1;14(21):5179-90
pubmed: 7489707
Cell. 2012 Jan 20;148(1-2):189-200
pubmed: 22265411
Anat Rec (Hoboken). 2008 Nov;291(11):1479-84
pubmed: 18951492
Pharmacol Rev. 1991 Jun;43(2):109-42
pubmed: 1852778
Genomics. 1998 Mar 1;48(2):265-9
pubmed: 9521882
J Biol Chem. 2011 Jul 15;286(28):24987-95
pubmed: 21561867
Hum Mol Genet. 2002 Mar 15;11(6):715-21
pubmed: 11912187
Eur Respir J. 2014 Dec;44(6):1579-88
pubmed: 25186273
Chest. 1990 Sep;98(3):608-12
pubmed: 2394139
Am J Hum Genet. 2015 Oct 1;97(4):546-54
pubmed: 26387594
J Neurosci Res. 2013 Sep;91(9):1117-32
pubmed: 23686703
J Cell Sci. 2014 Jun 15;127(Pt 12):2672-82
pubmed: 24706950
PLoS One. 2011;6(9):e24698
pubmed: 21931817
Nat Methods. 2012 Jul;9(7):671-5
pubmed: 22930834
Am J Respir Crit Care Med. 2014 Mar 15;189(6):707-17
pubmed: 24568568
Mol Cell Biol. 2005 May;25(10):4129-37
pubmed: 15870283
Med Image Anal. 2016 Aug;32:157-72
pubmed: 27104582
Leukemia. 2007 May;21(5):1026-34
pubmed: 17330099
Pediatr Pulmonol. 2016 Feb;51(2):115-32
pubmed: 26418604
J Cell Biol. 1963 Apr;17:208-12
pubmed: 13986422
Am J Respir Crit Care Med. 1995 Mar;151(3 Pt 1):800-4
pubmed: 7881674
Am J Hum Genet. 2018 May 3;102(5):956-972
pubmed: 29727692
PLoS One. 2014 Jan 21;9(1):e86195
pubmed: 24465953
J Cell Biol. 2011 Oct 3;195(1):19-26
pubmed: 21949415

Auteurs

Ximena M Bustamante-Marin (XM)

Cystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina, Chapel Hill, NC 27599, USA.

Wei-Ning Yin (WN)

Cystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina, Chapel Hill, NC 27599, USA.

Patrick R Sears (PR)

Cystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina, Chapel Hill, NC 27599, USA.

Michael E Werner (ME)

Biology Department, University of North Carolina, Chapel Hill, NC 27599, USA.

Eva J Brotslaw (EJ)

Department of Cell and Molecular Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.

Brian J Mitchell (BJ)

Department of Cell and Molecular Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.

Corey M Jania (CM)

Department of Medicine, Division of Pulmonary and Critical Care Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.

Kirby L Zeman (KL)

Center for Environmental Medicine, Asthma, and Lung Biology, University of North Carolina, Chapel Hill, NC 27599, USA.

Troy D Rogers (TD)

Cystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina, Chapel Hill, NC 27599, USA.

Laura E Herring (LE)

Department of Pharmacology, University of North Carolina, Chapel Hill, NC 27599, USA.

Luc Refabért (L)

Assistance Publique-Hôpitaux de Paris, Service de Pneumologie et Allergologie Pédiatriques, Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris 75015, France.

Lucie Thomas (L)

Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Childhood Genetic Disorders, Département de Génétique Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Trousseau, Paris 75012, France.

Serge Amselem (S)

Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Childhood Genetic Disorders, Département de Génétique Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Trousseau, Paris 75012, France.

Estelle Escudier (E)

Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Childhood Genetic Disorders, Département de Génétique Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Trousseau, Paris 75012, France.

Marie Legendre (M)

Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Childhood Genetic Disorders, Département de Génétique Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Trousseau, Paris 75012, France.

Barbara R Grubb (BR)

Cystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina, Chapel Hill, NC 27599, USA.

Michael R Knowles (MR)

Cystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina, Chapel Hill, NC 27599, USA.

Maimoona A Zariwala (MA)

Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC 27599, USA. Electronic address: maimoona_zariwala@med.unc.edu.

Lawrence E Ostrowski (LE)

Cystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina, Chapel Hill, NC 27599, USA. Electronic address: ostro@med.unc.edu.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Lack of GAS2L2 Causes PCD by Impairing Cilia...
questionsmedicales.fr › Cellules › Structures cellulaires › Prolongements cytoplasmiques › Cils vibratiles › Lack of GAS2L2 Causes PCD by Impairing Cilia...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Ciliopathies › Troubles de la motilité ciliaire › Lack of GAS2L2 Causes PCD by Impairing Cilia...
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › Lack of GAS2L2 Causes PCD by Impairing Cilia...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Exons › Lack of GAS2L2 Causes PCD by Impairing Cilia...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Délétion de séquence › Délétion de gène › Lack of GAS2L2 Causes PCD by Impairing Cilia...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Gènes létaux › Lack of GAS2L2 Causes PCD by Impairing Cilia...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Lack of GAS2L2 Causes PCD by Impairing Cilia...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Lack of GAS2L2 Causes PCD by Impairing Cilia...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Souris transgéniques › Souris knockout › Lack of GAS2L2 Causes PCD by Impairing Cilia...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines du cytosquelette › Protéines des microfilaments › Lack of GAS2L2 Causes PCD by Impairing Cilia...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › Protéines associées aux microtubules › Lack of GAS2L2 Causes PCD by Impairing Cilia...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Lack of GAS2L2 Causes PCD by Impairing Cilia...
questionsmedicales.fr › Phénomènes physiques › Déplacement › Rotation › Lack of GAS2L2 Causes PCD by Impairing Cilia...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Amphibiens › Anura › Pipidae › Xenopus › Lack of GAS2L2 Causes PCD by Impairing Cilia...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines d'amphibien › Protéines de Xénope › Lack of GAS2L2 Causes PCD by Impairing Cilia...