A Novel Mutation in Nucleoporin 35 Causes Murine Degenerative Colonic Smooth Muscle Myopathy.

scientific article published on 15 July 2016

A Novel Mutation in Nucleoporin 35 Causes Murine Degenerative Colonic Smooth Muscle Myopathy. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/J.AJPATH.2016.04.016
P932PMC publication ID5012464
P698PubMed publication ID27427419

P50authorChris GoodnowQ5106685
Ian A. ParishQ42203370
John B. FurnessQ42732057
Lincon A. StampQ50633183
P2093author name stringLisa A Miosge
Heather M Young
Yovina Sontani
Debbie R Howard
Ayla May D Lorenzo
Suzanne M Fowler
P2860cites workCLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choiceQ24286950
Vertebrate Nup53 interacts with the nuclear lamina and is required for the assembly of a Nup93-containing complexQ24523455
Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligandQ24555963
Chronic intestinal pseudo-obstructionQ24647826
Enteric nervous system development: migration, differentiation, and diseaseQ26849660
UCSF Chimera--a visualization system for exploratory research and analysisQ27860666
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanismQ28218691
Diffuse Abnormal Layering of Small Intestinal Smooth Muscle is Present in Patients With FLNA Mutations and X-linked Intestinal Pseudo-obstructionQ58443367
Genetic fate-mapping of tyrosine hydroxylase-expressing cells in the enteric nervous systemQ62582864
Macrophage-like cells in muscularis externa of mouse small intestine: immunohistochemical localization of F4/80, M1/70, and Ia-antigenQ69030025
Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstructionQ87774355
F4/80, a monoclonal antibody directed specifically against the mouse macrophageQ28281328
The crystal structure of mouse Nup35 reveals atypical RNP motifs and novel homodimerization of the RRM domainQ28506997
Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletionQ30847673
Crosstalk between muscularis macrophages and enteric neurons regulates gastrointestinal motility.Q34109011
Myofibroblasts in hollow visceral myopathy: the origin of gastrointestinal fibrosis?Q34376897
Gut peristalsis is governed by a multitude of cooperating mechanismsQ34874057
Early embryonic requirement for nucleoporin Nup35/NPP-19 in nuclear assembly.Q34922480
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstructionQ35220394
Increased smooth muscle contractility of intestine in the genetic null of the endothelin ETB receptor: a rat model for long segment Hirschsprung's diseaseQ35594409
Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvementQ35752546
Surgical Intervention to Rescue Hirschsprung Disease in a Rat Model.Q36211753
Nup53 is required for nuclear envelope and nuclear pore complex assemblyQ36536636
Involvement of intramuscular interstitial cells of Cajal in neuroeffector transmission in the gastrointestinal tractQ36594496
Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studiesQ36827186
Chronic intestinal pseudo-obstruction: manifestations, natural history and management.Q36847870
Visceral neuropathy and intestinal pseudo-obstruction in a murine model of a nuclear inclusion diseaseQ37227383
Practical pathology and genetics of Hirschsprung's diseaseQ37603675
Chronic intestinal pseudo-obstruction: clinical features, diagnosis, and therapyQ37958417
Nuclear pore complex composition: a new regulator of tissue-specific and developmental functionsQ38054510
New perspectives in the diagnosis and management of enteric neuropathies.Q38080664
Hirschsprung disease: a developmental disorder of the enteric nervous system.Q38116935
Striated muscle laminopathies.Q38179769
Studies on the localization and expression of nitric oxide synthase using histochemical techniquesQ40954654
Hypertrophy of intestinal smooth muscleQ41964244
Dimerization and direct membrane interaction of Nup53 contribute to nuclear pore complex assemblyQ42416092
Paternal experience suppresses adult neurogenesis without altering hippocampal function in Peromyscus californicusQ46059159
Nitric oxide targets in the guinea-pig intestine identified by induction of cyclic GMP immunoreactivityQ46554299
Inducible mouse model of chronic intestinal pseudo-obstruction by smooth muscle-specific inactivation of the SRF geneQ46869935
Severe intestinal obstruction on induced smooth muscle-specific ablation of the transcription factor SRF in adult miceQ46869939
Decreased mechanical stiffness in LMNA-/- cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies.Q51616068
Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of sylvius.Q52087556
Smoothelin-a is essential for functional intestinal smooth muscle contractility in mice.Q52567163
Activation of neural circuitry and Ca2+ waves in longitudinal and circular muscle during CMMCs and the consequences of rectal aganglionosis in mice.Q53587458
Interaction of Nup53 with Ndc1 and Nup155 is required for nuclear pore complex assembly.Q54405856
Deciphering Chronic Intestinal Pseudo-Obstruction: Do Mice Help to Solve the Riddle?Q58328222
P433issue9
P407language of work or nameEnglishQ1860
P304page(s)2254-2261
P577publication date2016-07-16
P1433published inThe American Journal of PathologyQ4744259
P1476titleA Novel Mutation in Nucleoporin 35 Causes Murine Degenerative Colonic Smooth Muscle Myopathy
P478volume186

Reverse relations

cites work (P2860)
Q58088815Deletion of IPR1 by Pdgfrb-Cre in mice results in intestinal pseudo-obstruction and lethality
Q92238217Mechanosensing at the Nuclear Envelope by Nuclear Pore Complex Stretch Activation and Its Effect in Physiology and Pathology
Q58557206Moonlighting nuclear pore proteins: tissue-specific nucleoporin function in health and disease
Q36360745The distribution of runs of homozygosity and selection signatures in six commercial meat sheep breeds.
Q39308124The roles of the nuclear pore complex in cellular dysfunction, aging and disease.

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