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Items: 1 to 50 of 265

1.

Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis.

Rayment JH, Jobling R, Bowdin S, Cutz E, Dell SD.

ERJ Open Res. 2019 Apr 26;5(2). pii: 00205-2018. doi: 10.1183/23120541.00205-2018. eCollection 2019 Apr.

2.

Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects.

Slot E, Edel G, Cutz E, van Heijst A, Post M, Schnater M, Wijnen R, Tibboel D, Rottier R, de Klein A.

Pulm Circ. 2018 Jul-Sep;8(3):2045894018795143. doi: 10.1177/2045894018795143. Epub 2018 Jul 30.

3.

Pulmonary interstitial glycogenosis associated with a spectrum of neonatal pulmonary disorders.

Cutz E, Chami R, Dell S, Langer J, Manson D.

Hum Pathol. 2017 Oct;68:154-165. doi: 10.1016/j.humpath.2017.06.026. Epub 2017 Sep 2.

PMID:
28873355
4.

Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations.

Vogel GF, van Rijn JM, Krainer IM, Janecke AR, Posovszky C, Cohen M, Searle C, Jantchou P, Escher JC, Patey N, Cutz E, Müller T, Middendorp S, Hess MW, Huber LA.

JCI Insight. 2017 Jul 20;2(14). pii: 94564. doi: 10.1172/jci.insight.94564. eCollection 2017 Jul 20.

5.

Abnormal Rab11-Rab8-vesicles cluster in enterocytes of patients with microvillus inclusion disease.

Vogel GF, Janecke AR, Krainer IM, Gutleben K, Witting B, Mitton SG, Mansour S, Ballauff A, Roland JT, Engevik AC, Cutz E, Müller T, Goldenring JR, Huber LA, Hess MW.

Traffic. 2017 Jul;18(7):453-464. doi: 10.1111/tra.12486. Epub 2017 May 17.

6.

Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.

Kahr WH, Pluthero FG, Elkadri A, Warner N, Drobac M, Chen CH, Lo RW, Li L, Li R, Li Q, Thoeni C, Pan J, Leung G, Lara-Corrales I, Murchie R, Cutz E, Laxer RM, Upton J, Roifman CM, Yeung RS, Brumell JH, Muise AM.

Nat Commun. 2017 Apr 3;8:14816. doi: 10.1038/ncomms14816.

7.

Concomitant Diffuse Alveolar Hemorrhage and Pulmonary Embolism in a Child with Isolated Pulmonary Capillaritis.

Rayment JH, Cutz E, Levy DM, Dell SD.

Ann Am Thorac Soc. 2017 Mar;14(3):470-473. doi: 10.1513/AnnalsATS.201610-783LE. No abstract available.

PMID:
28248576
8.
9.

PEPCK-C reexpression in the liver counters neonatal hypoglycemia in Pck1 del/del mice, unmasking role in non-gluconeogenic tissues.

Semakova J, Hyroššová P, Méndez-Lucas A, Cutz E, Bermudez J, Burgess S, Alcántara S, Perales JC.

J Physiol Biochem. 2017 Feb;73(1):89-98. doi: 10.1007/s13105-016-0528-y. Epub 2016 Oct 26.

PMID:
27785616
10.

The Disappearance of Sudden Infant Death Syndrome-Reply.

Cutz E.

JAMA Pediatr. 2016 Oct 1;170(10):1026-1027. doi: 10.1001/jamapediatrics.2016.1782. No abstract available.

PMID:
27571548
11.

Hepatoblastoma in Explanted Livers of Patients With Biliary Atresia.

Amir AZ, Sharma A, Cutz E, Avitzur Y, Shaikh F, Kamath BM, Ling SC, Ghanekar A, Ng VL.

J Pediatr Gastroenterol Nutr. 2016 Aug;63(2):188-94. doi: 10.1097/MPG.0000000000001167.

PMID:
27457778
12.

Liver transplantation for children with acute liver failure associated with secondary hemophagocytic lymphohistiocytosis.

Amir AZ, Ling SC, Naqvi A, Weitzman S, Fecteau A, Grant D, Ghanekar A, Cattral M, Nalli N, Cutz E, Kamath B, Jones N, De Angelis M, Ng V, Avitzur Y.

Liver Transpl. 2016 Sep;22(9):1245-53. doi: 10.1002/lt.24485. Epub 2016 Aug 2.

13.

Multilabel immunofluorescence and antigen reprobing on formalin-fixed paraffin-embedded sections: novel applications for precision pathology diagnosis.

Pan J, Thoeni C, Muise A, Yeger H, Cutz E.

Mod Pathol. 2016 Jun;29(6):557-69. doi: 10.1038/modpathol.2016.52. Epub 2016 Mar 4.

14.

Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease.

Li Q, Lee CH, Peters LA, Mastropaolo LA, Thoeni C, Elkadri A, Schwerd T, Zhu J, Zhang B, Zhao Y, Hao K, Dinarzo A, Hoffman G, Kidd BA, Murchie R, Al Adham Z, Guo C, Kotlarz D, Cutz E, Walters TD, Shouval DS, Curran M, Dobrin R, Brodmerkel C, Snapper SB, Klein C, Brumell JH, Hu M, Nanan R, Snanter-Nanan B, Wong M, Le Deist F, Haddad E, Roifman CM, Deslandres C, Griffiths AM, Gaskin KJ, Uhlig HH, Schadt EE, Muise AM.

Gastroenterology. 2016 May;150(5):1196-1207. doi: 10.1053/j.gastro.2016.01.031. Epub 2016 Feb 4.

15.

The Disappearance of Sudden Infant Death Syndrome: Has the Clock Turned Back?

Cutz E.

JAMA Pediatr. 2016 Apr;170(4):315-6. doi: 10.1001/jamapediatrics.2015.4172. No abstract available.

PMID:
26833064
16.

Hyperplasia of pulmonary neuroendocrine cells in infancy and childhood.

Cutz E.

Semin Diagn Pathol. 2015 Nov;32(6):420-37. doi: 10.1053/j.semdp.2015.08.001. Epub 2015 Aug 29. Review.

PMID:
26584876
17.

Augmented 5-HT Secretion in Pulmonary Neuroepithelial Bodies from PHD1 Null Mice.

Livermore S, Pan J, Yeger H, Ratcliffe P, Bishop T, Cutz E.

Adv Exp Med Biol. 2015;860:309-13. doi: 10.1007/978-3-319-18440-1_35.

PMID:
26303495
18.

Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia.

Elkadri A, Thoeni C, Deharvengt SJ, Murchie R, Guo C, Stavropoulos JD, Marshall CR, Wales P, Bandsma R, Cutz E, Roifman CM, Chitayat D, Avitzur Y, Stan RV, Muise AM.

Cell Mol Gastroenterol Hepatol. 2015 Jul;1(4):381-394.e7.

19.

Whole Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death.

Cutz E.

Pediatr Dev Pathol. 2015 Jul-Aug;18(4):339-40. doi: 10.2350/15-05-1639-LET.1. Epub 2015 Jun 4. No abstract available.

PMID:
26042525
20.

The Celiac Disease and Diabetes-Dietary Intervention and Evaluation Trial (CD-DIET) protocol: a randomised controlled study to evaluate treatment of asymptomatic coeliac disease in type 1 diabetes.

Mahmud FH, De Melo EN, Noordin K, Assor E, Sahota K, Davies-Shaw J, Cutz E, Somers G, Lawson M, Mack DR, Gallego P, McDonald C, Beaton MD, Bax K, Saibil F, Gilbert J, Kirsch S, Perkins BA, Cino M, Szentgyorgyi E, Koltin D, Parikh A, Mukerji G, Advani A, Lou O, Marcon MA.

BMJ Open. 2015 May 11;5(5):e008097. doi: 10.1136/bmjopen-2015-008097.

21.

Loss of ADAM17 is associated with severe multiorgan dysfunction.

Bandsma RH, van Goor H, Yourshaw M, Horlings RK, Jonkman MF, Schölvinck EH, Karrenbeld A, Scheenstra R, Kömhoff M, Rump P, Koopman-Keemink Y, Nelson SF, Escher JC, Cutz E, Martín MG.

Hum Pathol. 2015 Jun;46(6):923-8. doi: 10.1016/j.humpath.2015.02.010. Epub 2015 Mar 5.

22.

Pulmonary neuroepithelial bodies are polymodal airway sensors: evidence for CO2/H+ sensing.

Livermore S, Zhou Y, Pan J, Yeger H, Nurse CA, Cutz E.

Am J Physiol Lung Cell Mol Physiol. 2015 Apr 15;308(8):L807-15. doi: 10.1152/ajplung.00208.2014. Epub 2015 Feb 6.

23.

Aggregates of mutant CFTR fragments in airway epithelial cells of CF lungs: new pathologic observations.

Du K, Karp PH, Ackerley C, Zabner J, Keshavjee S, Cutz E, Yeger H.

J Cyst Fibros. 2015 Mar;14(2):182-93. doi: 10.1016/j.jcf.2014.09.012. Epub 2014 Oct 28.

24.

Risk factors and a true cause of SIDS.

Cutz E.

Pediatrics. 2014 Dec;134(6):e1777-8. doi: 10.1542/peds.2014-2794C. No abstract available.

25.

Immunohistochemical characterization of the chemosensory pulmonary neuroepithelial bodies in the naked mole-rat reveals a unique adaptive phenotype.

Pan J, Park TJ, Cutz E, Yeger H.

PLoS One. 2014 Nov 19;9(11):e112623. doi: 10.1371/journal.pone.0112623. eCollection 2014.

26.

Tachypnea of infancy as the first sign of Sanfilippo syndrome.

Chiang J, Raiman J, Cutz E, Solomon M, Dell S.

Pediatrics. 2014 Sep;134(3):e884-8. doi: 10.1542/peds.2013-2765. Epub 2014 Aug 11.

27.

Carbonic anhydrase II mediates malignant behavior of pulmonary neuroendocrine tumors.

Zhou Y, Mokhtari RB, Pan J, Cutz E, Yeger H.

Am J Respir Cell Mol Biol. 2015 Feb;52(2):183-92. doi: 10.1165/rcmb.2014-0054OC.

PMID:
25019941
28.

The distribution and frequency of pulmonary neuroendocrine cells in Down syndrome fetal lungs.

Bonasoni P, Reyes J, Keating S, Cutz E, Taylor G.

Fetal Pediatr Pathol. 2014 Jun;33(3):157-65. doi: 10.3109/15513815.2014.886001.

PMID:
24798587
29.

Loss of syntaxin 3 causes variant microvillus inclusion disease.

Wiegerinck CL, Janecke AR, Schneeberger K, Vogel GF, van Haaften-Visser DY, Escher JC, Adam R, Thöni CE, Pfaller K, Jordan AJ, Weis CA, Nijman IJ, Monroe GR, van Hasselt PM, Cutz E, Klumperman J, Clevers H, Nieuwenhuis EE, Houwen RH, van Haaften G, Hess MW, Huber LA, Stapelbroek JM, Müller T, Middendorp S.

Gastroenterology. 2014 Jul;147(1):65-68.e10. doi: 10.1053/j.gastro.2014.04.002. Epub 2014 Apr 12.

PMID:
24726755
30.

Mutations in Alström protein impair terminal differentiation of cardiomyocytes.

Shenje LT, Andersen P, Halushka MK, Lui C, Fernandez L, Collin GB, Amat-Alarcon N, Meschino W, Cutz E, Chang K, Yonescu R, Batista DA, Chen Y, Chelko S, Crosson JE, Scheel J, Vricella L, Craig BD, Marosy BA, Mohr DW, Hetrick KN, Romm JM, Scott AF, Valle D, Naggert JK, Kwon C, Doheny KF, Judge DP.

Nat Commun. 2014 Mar 4;5:3416. doi: 10.1038/ncomms4416.

31.

Pulmonary venoocclusive disease in childhood.

Woerner C, Cutz E, Yoo SJ, Grasemann H, Humpl T.

Chest. 2014 Jul;146(1):167-174. doi: 10.1378/chest.13-0172.

PMID:
24503954
32.

The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.

Kim RH, A Hall D, Cutz E, Knowles MR, Nelligan KA, Nykamp K, Zariwala MA, Dell SD.

Ann Am Thorac Soc. 2014 Mar;11(3):351-9. doi: 10.1513/AnnalsATS.201306-194OC.

33.

Case 2: A teenager with nausea, vomiting and dysarthria.

Atkinson C, Kamath BM, Mandelcorn J, Cutz E, Raiman JA.

Paediatr Child Health. 2013 Dec;18(10):515-7. No abstract available.

34.

Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.

Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, Chen H, Zhao Z, Elkadri A, Dhillon S, Murchie R, Fattouh R, Huynh H, Walker JL, Wales PW, Cutz E, Kakuta Y, Dudley J, Kammermeier J, Powrie F, Shah N, Walz C, Nathrath M, Kotlarz D, Puchaka J, Krieger JR, Racek T, Kirchner T, Walters TD, Brumell JH, Griffiths AM, Rezaei N, Rashtian P, Najafi M, Monajemzadeh M, Pelsue S, McGovern DP, Uhlig HH, Schadt E, Klein C, Snapper SB, Muise AM.

Gastroenterology. 2014 Apr;146(4):1028-39. doi: 10.1053/j.gastro.2014.01.015. Epub 2014 Jan 11.

35.

Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity.

Thoeni CE, Vogel GF, Tancevski I, Geley S, Lechner S, Pfaller K, Hess MW, Müller T, Janecke AR, Avitzur Y, Muise A, Cutz E, Huber LA.

Traffic. 2014 Jan;15(1):22-42. doi: 10.1111/tra.12131. Epub 2013 Nov 19.

36.

From diarrhea to obesity in prohormone convertase 1/3 deficiency: age-dependent clinical, pathologic, and enteroendocrine characteristics.

Bandsma RH, Sokollik C, Chami R, Cutz E, Brubaker PL, Hamilton JK, Perlman K, Zlotkin S, Sigalet DL, Sherman PM, Martin MG, Avitzur Y.

J Clin Gastroenterol. 2013 Nov-Dec;47(10):834-43. doi: 10.1097/MCG.0b013e3182a89fc8.

37.

Efficient gene delivery to pig airway epithelia and submucosal glands using helper-dependent adenoviral vectors.

Cao H, Machuca TN, Yeung JC, Wu J, Du K, Duan C, Hashimoto K, Linacre V, Coates AL, Leung K, Wang J, Yeger H, Cutz E, Liu M, Keshavjee S, Hu J.

Mol Ther Nucleic Acids. 2013 Oct 8;2:e127. doi: 10.1038/mtna.2013.55.

38.

A novel nonsense mutation in the EpCAM gene in a patient with congenital tufting enteropathy.

Thoeni C, Amir A, Guo C, Zhang S, Avitzur Y, Heng YM, Cutz E, Muise AM.

J Pediatr Gastroenterol Nutr. 2014 Jan;58(1):18-21. doi: 10.1097/MPG.0000000000000106.

PMID:
24048167
39.

Combination of carbonic anhydrase inhibitor, acetazolamide, and sulforaphane, reduces the viability and growth of bronchial carcinoid cell lines.

Mokhtari RB, Kumar S, Islam SS, Yazdanpanah M, Adeli K, Cutz E, Yeger H.

BMC Cancer. 2013 Aug 8;13:378. doi: 10.1186/1471-2407-13-378.

40.

Variable clinical outcome of ABCA3 deficiency in two siblings.

Thavagnanam S, Cutz E, Manson D, Nogee LM, Dell SD.

Pediatr Pulmonol. 2013 Oct;48(10):1035-8. doi: 10.1002/ppul.22698. Epub 2013 Jul 2. Review.

PMID:
23818309
41.

Late-onset ornithine transcarbamylase deficiency presenting with asymptomatic liver dysfunction.

Nightingale S, Raiman JA, Cutz E, Faghfoury H, Ng VL.

J Pediatr Gastroenterol Nutr. 2014 Jun;58(6):e55-7. doi: 10.1097/MPG.0b013e318282aa3b. No abstract available.

PMID:
23254441
42.

Successful liver transplantation in an infant with stage 4S(M) neuroblastoma.

Steele M, Jones NL, Ng V, Kamath B, Avitzur Y, Chami R, Cutz E, Fecteau A, Baruchel S.

Pediatr Blood Cancer. 2013 Mar;60(3):515-7. doi: 10.1002/pbc.24391. Epub 2012 Nov 14.

PMID:
23152322
43.

Hyperplasia of pulmonary neuroepithelial bodies (NEB) in lungs of prolyl hydroxylase -1(PHD-1) deficient mice.

Pan J, Yeger H, Ratcliffe P, Bishop T, Cutz E.

Adv Exp Med Biol. 2012;758:149-55. doi: 10.1007/978-94-007-4584-1_21.

44.

Recent advances and contraversies on the role of pulmonary neuroepithelial bodies as airway sensors.

Cutz E, Pan J, Yeger H, Domnik NJ, Fisher JT.

Semin Cell Dev Biol. 2013 Jan;24(1):40-50. doi: 10.1016/j.semcdb.2012.09.003. Epub 2012 Sep 26. Review.

PMID:
23022441
45.

Pulmonary hypertensive vasculopathy following tandem autologous transplantation in pediatric patients with central nervous system tumors.

Schechter T, Leucht S, Bouffet E, Cutz E, Gassas A, Huang A, Bartels U, Humpl T, Doyle J.

Biol Blood Marrow Transplant. 2013 Feb;19(2):235-9. doi: 10.1016/j.bbmt.2012.09.011. Epub 2012 Sep 26.

46.

NOX2 (gp91phox) is a predominant O2 sensor in a human airway chemoreceptor cell line: biochemical, molecular, and electrophysiological evidence.

Buttigieg J, Pan J, Yeger H, Cutz E.

Am J Physiol Lung Cell Mol Physiol. 2012 Oct 1;303(7):L598-607. doi: 10.1152/ajplung.00170.2012. Epub 2012 Aug 3.

47.

IL-10R polymorphisms are associated with very-early-onset ulcerative colitis.

Moran CJ, Walters TD, Guo CH, Kugathasan S, Klein C, Turner D, Wolters VM, Bandsma RH, Mouzaki M, Zachos M, Langer JC, Cutz E, Benseler SM, Roifman CM, Silverberg MS, Griffiths AM, Snapper SB, Muise AM.

Inflamm Bowel Dis. 2013 Jan;19(1):115-23. doi: 10.1002/ibd.22974.

48.

Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency.

Grunebaum E, Cutz E, Roifman CM.

J Allergy Clin Immunol. 2012 Jun;129(6):1588-93. doi: 10.1016/j.jaci.2012.02.003. Epub 2012 Mar 10.

PMID:
22409989
49.

Elf3 plays a role in regulating bronchiolar epithelial repair kinetics following Clara cell-specific injury.

Oliver JR, Kushwah R, Wu J, Pan J, Cutz E, Yeger H, Waddell TK, Hu J.

Lab Invest. 2011 Oct;91(10):1514-29. doi: 10.1038/labinvest.2011.100. Epub 2011 Jun 27.

50.

Pulmonary neuroepithelial bodies as airway sensors: putative role in the generation of dyspnea.

Domnik NJ, Cutz E.

Curr Opin Pharmacol. 2011 Jun;11(3):211-7. doi: 10.1016/j.coph.2011.04.003. Epub 2011 Apr 27. Review.

PMID:
21530400

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