Results 261 to 270 of about 111,118 (342)

Detection of Low Levels of DNAJB1::PRKACA Fusion KinaseRequires the Utilization of Sensitive Assays and CarefulMethodological Planning. Reply to Palaz et al. Independent Multi-Cohort RNA-Seq Analysis Does Not Support Recurrent DNAJB1::PRKACA Fusion in Hepatoblastoma or Biliary Atresia. Comment on "Fleifil et al. DNAJB1-PKAc Kinase Is Expressed in Young Patients with Pediatric Liver Cancers and Enhances Carcinogenic Pathways. <i>Cancers</i> 2025, <i>17</i>, 83". [PDF]

Cancers (Basel)
Fleifil Y, Gulati R, Jennings K, Miethke A, Bondoc A, Tiao G, Karns R, Timchenko L, Timchenko N.   +8 more
europepmc   +1 more source

Patent Ductus Arteriosus Recanalization in Tricuspid Atresia with Restrictive Ventricular Septal Defect and Moderate Pulmonary Valve Stenosis: A Minimally Invasive Strategy in a Critical Case

Gede Dewagama M., Eka Gunawijaya, Veny K Yantie   +2 more
openalex   +2 more sources

Corrigendum to: Role of tricuspid valve repair in pulmonary atresia with intact ventricular septum: fresh autologous pericardium as a viable option. [PDF]

Interdiscip Cardiovasc Thorac Surg
europepmc   +1 more source

Spatial transcriptomics supports a role for SOX4-driven signaling throughout the disease course of biliary atresia. [PDF]

Hepatol Commun
Ziogas IA, Conover KR, Dobrinskikh E, Al-Juboori SI, Gromer KD, Malladi P, Wright CJ, Sokol RJ, Andrews T, Taylor SA.   +9 more
europepmc   +1 more source

Expanded Hepatic Progenitor Cells Featured with Aggregation of α‐Synuclein Contribute to Pathologic Bile Duct Regeneration in Biliary Atresia

Advanced Science, Volume 13, Issue 50, 7 September 2026.
Expanded NCAM1+EpCAM+ hepatic progenitor cells in biliary atresia are characterized by aggregation of α‐synuclein. This pathological protein potentiates cellular susceptibility to GSH‐dependent redox dyshomeostasis, induces unstable biliary cell fate specification, and subsequently drives aberrant biliary regeneration.
Hua Xie, Mengyan Zhu, Zhongxian Zhu, Jiaqi Tang, Ruyi Zhang, Zequan Ding, Junzhi Li, Zhongluan Wu, Paul Kwong Hang Tam, Qianghu Wang, Vincent Chi Hang Lui, Yankai Xia, Weibing Tang   +12 more
wiley   +1 more source

Analysis of aspartate aminotransferase-to-platelet ratio index and liver fibrosis in biliary atresia. [PDF]

J Coll Med S Afr
Brits E, Brown S, Botes L, Pienaar M.
europepmc   +1 more source

PREMATURITY AND NUTRITIONAL RECOVERY AFTER DUODENAL ATRESIA REPAIR: A STRUCTURED NARRATIVE REVIEW

Nicole Nogueira Cardoso, Gabriela Buffon, José Vicente Chipoletti Picca, Melissa Aline Mayumi Mabuchi, Victor Hugo Dantas Pereira, Gabriel Künzle Ribeiro Magalhães, Erick Tomikawa Abe, Vitória Darli Bertelli Bueno, Júlia Liz Longhi de Oliveira, Julia Levy Valério, João Pedro Andreatta Fracaro, Kellen Cristina Kamimura Barbosa Silva   +11 more
openalex   +2 more sources

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

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2010-2018, September 2026.
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

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

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
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

Rare Association of Type 1 Omphalocele With Ileocecal Atresia and Congenital Appendiceal Agenesis: A Case Report. [PDF]

Cureus
Mellouki MT, Benmassaoud Z, Zouirech Y, Cherrabi H.   +3 more
europepmc   +1 more source