Results 31 to 40 of about 138,072 (341)

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts [PDF]

, 2017
Acknowledgements We sincerely thank the patients and family members who participated in this study. We would also like to thank Stefan Esher, Umeå University, for help with genealogy, and Anna Westerlund for excellent technical assistance.
Ameur, Adam, Coxon, Fraser P., Dahl, Niklas, Hallmans, Göran, Helfrich, Miep H., Henning, Petra, Kellgren, Therese G., Klar, Joakim, Lerner, Ulf H., Lönnerholm, Torsten, McDermott, Emma, Rydén, Patrik, Sandström, Per-Erik, Stattin, Eva-Lena, Stecksen-Blicks, Christina, Wikström, Johan   +15 more
core   +1 more source

Contemporary management of pain in cirrhosis: Toward precision therapy for pain

Hepatology, EarlyView., 2022
Abstract Chronic pain is highly prevalent in patients with cirrhosis and is associated with poor health‐related quality of life and poor functional status. However, there is limited guidance on appropriate pain management in this population, and pharmacologic treatment can be harmful, leading to adverse outcomes, such as gastrointestinal bleeding ...
Alexis Holman, Neehar Parikh, Dan J. Clauw, David A. Williams, Elliot B. Tapper   +4 more
wiley   +1 more source

Co-Inheritance of Haemoglobin D-Punjab and Beta Thalassemia - A Rare Variant [PDF]

Journal of Clinical and Diagnostic Research, 2017
Haemoglobinopathies are a frequent cause of anaemia in Northwestern India due to traditional practices of consanguineous marriages. Haemoglobin D-Punjab is one of the most common subvariants (55%) of haemoglobin D, which can be inherited as a homozygous
Kalyan Mansukhbhai Shekhda, Alpa C Leuva, Jyoti G Mannari, Aashka Vikas Ponda, Amee Amin   +4 more
doaj   +1 more source

Elevated plasma EDA fibronectin in primary myelofibrosis is determined by high allele burden of JAK2V617F mutation and strongly predicts splenomegaly progression

Frontiers in Oncology, 2022
In primary myelofibrosis, extra-domain A fibronectin (EDA-FN), the result of alternative splicing of FN gene, sustains megakaryocyte proliferation and confers a pro-inflammatory phenotype to bone marrow cell niches. In this work we assessed the levels of
Alessandro Malara, Cristian Gruppi, Margherita Massa, Maria Enrica Tira, Vittorio Rosti, Alessandra Balduini, Giovanni Barosi   +6 more
doaj   +1 more source

Overexpression of Mcl-1 exacerbates lymphocyte accumulation and autoimmune kidney disease in lpr mice [PDF]

, 2016
Cell death by apoptosis has a critical role during embryonic development and in maintaining tissue homeostasis. In mammals, there are two converging apoptosis pathways: the ‘extrinsic’ pathway, which is triggered by engagement of cell surface ‘death ...
A Egle, A Enders, A Strasser, A Strasser, A Strasser, A Strasser, A Strasser, A Strasser, A Villunger, AE Weant, AR Delbridge, BA Croker, Cassandra J Vandenberg, DA Hildeman, DA Steimer, E Lagasse, E Schneider, EA Reap, EM Carrington, F Rieux-Laucat, GH Fisher, I Dzhagalov St, I Vikstrom, IN Lavrik, J Hutcheson, J Opferman, JI Fletcher, JJ Weening, JM Brouwer, JT Opferman, K Fecho, K Iwai, K Nakayama, KA Fortner, KD Mason, Kirsteen J Campbell, KJ Campbell, KL O'Neill, L Chen, Lorraine A O’Reilly, M Pellegrini, MN Martina, Natasha S Anstee, P Bouillet, P Hughes, PD Hughes, PE Czabotar, PE Czabotar, Peter D Hughes, PH Krammer, PL Cohen, R Watanabe-Fukunaga, RM Perciavalle, S Cory, S Ogilvy, SF Fischer, SN Willis, SN Willis, Suzanne Cory, T Kuwana, T Moldoveanu, TH Price, TJ McDonnell, V Peperzak, WC Liles, WF Davidson   +65 more
core   +3 more sources

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Profuse telangiectasias in an immunocompetent patient misleading presentation revealing a hepatosplenic‐Tγδ‐cell lymphoma

Clinical Case Reports, 2022
Here we present the case of an hepato‐splenic‐Tγδ‐cell lymphoma interestingly occurring in a non‐immunocompromised patient, with profuse telangiectasias giving originally misleading orientation towards the diagnosis of B angiotropic lymphoma.
Ava Diarra, Benjamin Carpentier, Romain Dubois, Stéphanie Poulain, Leo Klapisz, Louis Terriou, Meryem‐Maud Farhat   +6 more
doaj   +1 more source

Idiopathic noncirrhotic portal hypertension: current perspectives [PDF]

, 2016
The term idiopathic noncirrhotic portal hypertension (INCPH) has been recently proposed to replace terms, such as hepatoportal sclerosis, idiopathic portal hypertension, incomplete septal cirrhosis, and nodular regenerative hyperplasia, used to describe ...
D'AMATI, Giulia, Gioia, Stefania, Nicoletti, Valeria, PENTASSUGLIO, ILARIA, RIGGIO, Oliviero, VALENTE, MICHELE   +5 more
core   +1 more source

Minihepcidins improve ineffective erythropoiesis and splenomegaly in a new mouse model of adult β-thalassemia major

Haematologica, 2019
Minihepcidins are hepcidin agonists that have been previously shown to reverse iron overload and improve erythropoiesis in mice affected by non-transfusion-dependent thalassemia.
C. Casu, Roberta Chessa, Alison Liu, Ritama Gupta, H. Drakesmith, R. Fleming, Y. Ginzburg, B. Macdonald, S. Rivella   +8 more
semanticscholar   +1 more source

RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease

Hepatology, EarlyView., 2022
RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease. Abstract Background and Aims Receptor‐interacting protein kinase 3 (RIPK3) mediates NAFLD progression, but its metabolic function is unclear. Here, we aimed to investigate the role of RIPK3 in modulating mitochondria function, coupled with lipid droplet (LD)
Marta B. Afonso, Tawhidul Islam, Julie Magusto, Ricardo Amorim, Véronique Lenoir, Rui F. Simões, José Teixeira, Liana C. Silva, Dominique Wendum, Isabelle Jéru, Corinne Vigouroux, Rui E. Castro, Paulo J. Oliveira, Carina Prip‐Buus, Vlad Ratziu, Jérémie Gautheron, Cecília M. P. Rodrigues   +16 more
wiley   +1 more source