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A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1266-1268

2015

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Challenges in the Pathophysiology, Diagnosis, and Management of Intestinal Fibrosis in Inflammatory Bowel Disease

Gastroenterology, 2022-01, Vol.162 (1), p.26-31

2022

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C-reactive protein can be an early predictor of postoperative complications after gastrectomy for gastric cancer

Surgical endoscopy, 2017-01, Vol.31 (1), p.445-454

2017

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Cystic Fibrosis and the Nervous System

Chest, 2017-05, Vol.151 (5), p.1147-1155

Reznikov, Leah R., PhD

2017

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Commensal Bacterial Endocytosis in Epithelial Cells Is Dependent on Myosin Light Chain Kinase–Activated Brush Border Fanning by Interferon-γ

The American journal of pathology, 2014-08, Vol.184 (8), p.2260-2274

2014

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Increased expression of yes-associated protein/YAP and transcriptional coactivator with PDZ-binding motif/TAZ activates intestinal fibroblasts to promote intestinal obstruction in Crohn's disease

EBioMedicine, 2021-07, Vol.69, p.103452-103452, Article 103452

2021

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Aryl Hydrocarbon Receptor Activation in Intestinal Obstruction Ameliorates Intestinal Barrier Dysfunction via Suppression of MLCK-MLC Phosphorylation Pathway

Shock (Augusta, Ga.), 2016-09, Vol.46 (3), p.319-328

2016

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Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2C

American journal of human genetics, 2012-05, Vol.90 (5), p.893-899

2012

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Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE

Journal of translational medicine, 2024-05, Vol.22 (1), p.449-19, Article 449

2024

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Mini-review: Enteric glial cell reactions to inflammation and potential therapeutic implications for GI diseases, motility disorders, and abdominal pain

Neuroscience letters, 2023-08, Vol.812, p.137395-137395, Article 137395

2023

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LPAR1 regulates enteric nervous system function through glial signaling and contributes to chronic intestinal pseudo-obstruction

The Journal of clinical investigation, 2022-02, Vol.132 (4)

2022

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Loss‐of‐function variants within LMOD1 actin‐binding site 2 cause pediatric intestinal pseudo‐obstruction by impairing protein stability and actin nucleation

The FASEB journal, 2022-03, Vol.36 (3), p.e22194-n/a

2022

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Increased IGF-IEc expression and mechano-growth factor production in intestinal muscle of fibrostenotic Crohn's disease and smooth muscle hypertrophy

American journal of physiology: Gastrointestinal and liver physiology, 2015-12, Vol.309 (11), p.G888-G899

2015

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Fibroblast activation protein expression in Crohn's disease strictures

Inflammatory bowel diseases, 2011-05, Vol.17 (5), p.1251-1253

2011

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ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Human molecular genetics, 2016-02, Vol.25 (3), p.571-583

2016

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Insights from a novel model of slow-transit constipation generated by partial outlet obstruction in the murine large intestine

American journal of physiology: Gastrointestinal and liver physiology, 2012-11, Vol.303 (9), p.G1004-G1016

2012

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Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome

Human molecular genetics, 2014-05, Vol.23 (9), p.2459-2467

2014

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De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis

Human genetics, 2014-06, Vol.133 (6), p.737-742

2014

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Segregation of a Missense Variant in Enteric Smooth Muscle Actin γ -2 With Autosomal Dominant Familial Visceral Myopathy

Gastroenterology (New York, N.Y. 1943), 2012-12, Vol.143 (6), p.1482-1491.e3

2012

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Histopathological, Ultrastructural, and Immunohistochemical Findings in MYH11-Variant Visceral Myopathy

Pediatric and developmental pathology, 2023-01, Vol.26 (1), p.39-51

Kapur, Raj P.

2023

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Impact of a procalcitonin-based algorithm on the management of adhesion-related small bowel obstruction

Journal of visceral surgery, 2017-09, Vol.154 (4), p.231-237

2017

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Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy

American journal of physiology: Gastrointestinal and liver physiology, 2021-05, Vol.320 (5), p.G768-G779

2021

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Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis

PLoS genetics, 2012-03, Vol.8 (3), p.e1002580-e1002580

2012

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Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal

Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.33-33, Article 33

2019

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Loss function of Bcr mutation causes gastrointestinal dysmotility and brain developmental defects

Neurogastroenterology and motility, 2021-12, Vol.33 (12), p.e14190-n/a

2021

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1 – 25 von 745

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A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

Challenges in the Pathophysiology, Diagnosis, and Management of Intestinal Fibrosis in Inflammatory Bowel Disease

C-reactive protein can be an early predictor of postoperative complications after gastrectomy for gastric cancer

Cystic Fibrosis and the Nervous System

Commensal Bacterial Endocytosis in Epithelial Cells Is Dependent on Myosin Light Chain Kinase–Activated Brush Border Fanning by Interferon-γ

Increased expression of yes-associated protein/YAP and transcriptional coactivator with PDZ-binding motif/TAZ activates intestinal fibroblasts to promote intestinal obstruction in Crohn's disease

Aryl Hydrocarbon Receptor Activation in Intestinal Obstruction Ameliorates Intestinal Barrier Dysfunction via Suppression of MLCK-MLC Phosphorylation Pathway

Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2C

Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE

Mini-review: Enteric glial cell reactions to inflammation and potential therapeutic implications for GI diseases, motility disorders, and abdominal pain

LPAR1 regulates enteric nervous system function through glial signaling and contributes to chronic intestinal pseudo-obstruction

Loss‐of‐function variants within LMOD1 actin‐binding site 2 cause pediatric intestinal pseudo‐obstruction by impairing protein stability and actin nucleation

Increased IGF-IEc expression and mechano-growth factor production in intestinal muscle of fibrostenotic Crohn's disease and smooth muscle hypertrophy

Fibroblast activation protein expression in Crohn's disease strictures

ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Insights from a novel model of slow-transit constipation generated by partial outlet obstruction in the murine large intestine

Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis

Segregation of a Missense Variant in Enteric Smooth Muscle Actin γ -2 With Autosomal Dominant Familial Visceral Myopathy

Histopathological, Ultrastructural, and Immunohistochemical Findings in MYH11-Variant Visceral Myopathy

Impact of a procalcitonin-based algorithm on the management of adhesion-related small bowel obstruction

Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy

Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis

Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal

Loss function of Bcr mutation causes gastrointestinal dysmotility and brain developmental defects

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