Results 71 to 80 of about 106,182 (308)

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Histone deacetylase adaptation in single ventricle heart disease and a young animal model of right ventricular hypertrophy. [PDF]

, 2017
BackgroundHistone deacetylase (HDAC) inhibitors are promising therapeutics for various forms of cardiac diseases. The purpose of this study was to assess cardiac HDAC catalytic activity and expression in children with single ventricle (SV) heart disease ...
A Cevik, A Correa-Villasenor, A deAlmeida, A Granger, A Kulkarni, AP Vlahos, C Scholz, Carlin S Long, CL Antos, D Sedmera, DD Lemon, DJ Cao, Douglas D Lemon, J Lu, JP Cardinale, JW Newburger, JW Rossano, JW Rossano, Karin Nunley, Katharina M Lutter, KB Schuetze, Kimberly M Demos-Davies, KM Demos-Davies, M Tanno, MA Cavasin, MA Cavasin, Maria A Cavasin, MP Gupta, OA O'Connor, PA Marks, PC Frommelt, Q Yang, R Kirk, RG Ohye, S Chen, Sam Payne, SD Miyamoto, SD Miyamoto, SD Miyamoto, Shelley D Miyamoto, SJ Nakano, SK Mani, SM Williams, TA McKinsey, TG Gillette, Timothy A McKinsey, VM Klimek, Weston W Blakeslee, WJ Kowalski, WW Blakeslee   +49 more
core   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Giant cardiac hydatid cyst in the interventricular septum protruding to right ventricular epicardium

Indian Heart Journal, 2013
Cardiac hydatid cyst is a rare condition, and the location of a hydatid cyst in the interventricular septum is exceptional. A 54-year-old female was admitted to our hospital with complaints of chest pain, shortness of breath and malaise.
Yuksel Besir, Arif Gucu, Suleyman Surer, Orhan Rodoplu, Mehmet Melek, Omer Tetik   +5 more
doaj   +1 more source

Speckle-tracking echocardiography combined with imaging mass spectrometry assesses region-dependent alterations [PDF]

, 2020
Left ventricular (LV) contraction is characterized by shortening and thickening of longitudinal and circumferential fibres. To date, it is poorly understood how LV deformation is altered in the pathogenesis of streptozotocin (STZ)-induced type 1 diabetes
Dong, Fengquan, El-Shafeey, Muhammad, Grune, Jana, Hegemann, Niklas, Kintscher, Ulrich, Klein, Oliver, Kuebler, Wolfgang M., Lin, Jie, Linthout, Sophie Van, Pappritz, Kathleen, Tschöpe, Carsten   +10 more
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Automatic segmentation of the left ventricle cavity and myocardium in MRI data [PDF]

, 2006
A novel approach for the automatic segmentation has been developed to extract the epi-cardium and endo-cardium boundaries of the left ventricle (lv) of the heart. The developed segmentation scheme takes multi-slice and multi-phase magnetic resonance (MR)
Azhari, Bland, Canny, Cerqueira, Chakraborty, Cootes, Delibasis, Duda, Gerard, Gerig, Hamarneh, Hartigan, Kass, Lelieveldt, Ligier, Ligier, Lynch, M. Lynch, Malladi, Malladi, McCann, McInerney, McInerney, Mitchell, Montagnat, Myerson, O. Ghita, Osher, P.F. Whelan, Perona, Rogers, Sanchez-Ortiz, Sanchez-Ortiz, Schalla, Sethian, Spreeuwers, Späth, Staib, Suri, Suri, Urschler, van der Geest, Waiter   +42 more
core   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Epicardial deployment of right ventricular disk during perventricular device closure in a child with apical muscular ventricular septal defect

Annals of Pediatric Cardiology, 2013
We report a successful perventricular closure of an apical muscular ventricular septal defect (mVSD) by a modified technique. An eight-month-old infant, weighing 6.5 kilograms, presented with refractory heart failure.
Nageswara Rao Koneti, Sudeep Verma, Shweta Bakhru, Karunakar Vadlamudi, Pallavi Kathare, B R Jagannath   +5 more
doaj   +1 more source

Dyssynchrony Induced by Ventricular Preexcitation: A Risk Factor for the Development of Dilated Cardiomyopathy

Cardiovascular Innovations and Applications, 2020
Background: Significant left ventricular dysfunction may arise in right-sided accessory pathways with ventricular preexcitation in the absence of recurrent or incessant tachycardia.
Chencheng Dai, Baojing Guo, Ling Han, Caihua Sang, Jianzeng Dong, Changsheng Ma   +5 more
doaj   +1 more source