Results 121 to 130 of about 118,084 (252)
Hepatology, EarlyView., 2022 Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Abstract Background and Aims Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real‐world data are lacking.
Shannon M. Vandriel +93 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
Angewandte Chemie, EarlyView.This review highlights an emerging anticancer approach integrating platinum agents into photodynamic therapy (PDT) and photoactivated chemotherapy (PACT) systems, further augmented by cancer cell membrane‐ and organelle‐targeting. By directing photoactivated platinum complexes from nontargeted distribution to cancer cells or defined subcellular sites ...
Shu Chen +3 more
wiley +2 more sources
Interleukin‐18 signaling promotes activation of hepatic stellate cells in mouse liver fibrosis
Hepatology, EarlyView., 2022 Interleukin‐18 signaling promotes activation of hepatic stellate cells in mouse liver fibrosis. Abstract Background and Aims Nucleotide‐binding oligomerization domain‐like receptor‐family pyrin domain‐containing 3 (NLRP3) inflammasome activation has been shown to result in liver fibrosis.
Jana Knorr +19 more
wiley +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Serum bile acids as a prognostic biomarker in biliary atresia following Kasai portoenterostomy
Hepatology, EarlyView., 2022 Serum bile acid levels predict outcomes in patients with biliary atresia who achieve normalized bilirubin levels after Kasai portoenterostomy. Abstract Background and Aims In biliary atresia, serum bilirubin is commonly used to predict outcomes after Kasai portoenterostomy (KP).
Sanjiv Harpavat +22 more
wiley +1 more source
Application of convolutional neural networks for automated segmentation and classification in esophageal diseases. [PDF]
Front Med (Lausanne)Pu L, Wang X, Yan S, Zhuang S, He X.
europepmc +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Oral health status and esophageal diseases: Univariate and multivariate Mendelian randomization analyses. [PDF]
Medicine (Baltimore)Xu Z, Zou X, Liu S.
europepmc +1 more source
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source