Results 41 to 50 of about 2,523,567 (168)

Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis

Diagnostic Pathology, 2022
Background Ocular cystinosis is a rare autosomal recessive disorder characterized by intralysosomal cystine accumulation in renal, ophthalmic (cornea, conjunctiva), and other organ abnormalities.
Latifa Chkioua, Yessine Amri, Chaima Saheli, Wassila Mili, Sameh Mabrouk, Imen Chabchoub, Hela Boudabous, Wissem Ben Azzouz, Hadhami Ben Turkia, Salima Ferchichi, Neji Tebib, Taieb Massoud, Mohamed Ghorbel, Sandrine Laradi   +13 more
doaj   +1 more source

Genetic organisation, mobility and predicted functions of genes on integrated, mobile genetic elements in sequenced strains of Clostridium difficile.

PLoS ONE, 2011
BackgroundClostridium difficile is the leading cause of hospital-associated diarrhoea in the US and Europe. Recently the incidence of C. difficile-associated disease has risen dramatically and concomitantly with the emergence of 'hypervirulent' strains ...
Michael S M Brouwer, Philip J Warburton, Adam P Roberts, Peter Mullany, Elaine Allan   +4 more
doaj   +1 more source

Horizontal gene transfer of conjugative transposons Tn916

上海师范大学学报. 自然科学版, 2022
Horizontal gene transfer (HGT) greatly improves the adaptability of bacteria to the environment, and promotes the evolution of bacteria. Genomic islands (GEIs) are the gene fragments obtained by HGT in prokaryotes.
LIU Tianren, SONG Lei
doaj   +1 more source

WCN25-2709 MUTATIONAL SPECTRUM OF CTNS GENE IN INDIAN CHILDREN WITH NEPHROPATHIC CYSTINOSIS

Kidney International Reports
Vishnu Dev, Girish Bhatt, Sriram Krishnamurthy, Shikha Malik, Amber Kumar, Mahesh Maheshwari, Bhavna Dhingra, Tanya Sharma, Abhijit Pakhare, Ashok Kumar, Bobbity Deepthi, Sudarsan Krishnasamy   +11 more
doaj   +2 more sources

Network based approach identifies miR‐145‐3p as a central regulatory hub associated to the progression from localized to metastatic medullary thyroid carcinoma

The Journal of Pathology, EarlyView.
Abstract Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor originating from calcitonin producing C‐cells and accounts for 1–5% of thyroid cancers. Total thyroidectomy is curative in localized disease (N0), whereas lymph node metastases (N1) are associated with poorer prognosis.
Anna Citarella, Manuela Petti, Zein Mersini Besharat, Caterina Alfano, Elena Splendiani, Sofia Trocchianesi, Sara Cassandro, Martina Chiacchiarini, Claudia Sabato, Francesca Gianno, Tanja Milena Autilio, Martina Brunetti, Giuseppina Catanzaro, Antonella Verrienti, Rossella Elisei, Raffaele Ciampi, Cristina Romei, Maria Grazia Castagna, Silvia Cantara, Vincenzo Marotta, Luciano Pezzullo, Lorenzo Farina, Cosimo Durante, Agnese Po, Elisabetta Ferretti   +24 more
wiley   +1 more source

CTNS mutations in patients with cystinosis

, 1999
Cystinosis is an autosomal recessive lysosomal storage disease caused by mutations in the gene CTNS. The CTNS gene product, cystinosin, has 367 amino acids and seven transmembrane domains and is thought to transport cystine out of lysosomes.
Shotelersuk, Vorasuk, Anikster, Yair, Gahl, William A.   +2 more
core   +1 more source

Bortezomib‐based chemotherapy in Chinese pediatric patients with relapsed/refractory acute lymphoblastic leukemia: A single‐center retrospective study

Pediatric Investigation, EarlyView.
Bortezomib‐based chemotherapy achieved an 88.9% remission rate in Chinese pediatric patients with relapsed/refractory B‐cell acute lymphoblastic leukemia, enabling 62.5% of responders to bridge to transplantation, while T‐cell acute lymphoblastic leukemia showed no response.
Xingyu Zhao, Jian Wang, Liping Que, Dunhua Zhou, Jianpei Fang, Luhong Xu   +5 more
wiley   +1 more source

Human cerebral arterial morphogenesis explored by 3D microscopic imaging of cleared embryos: Bridging the gap between embryonic and adult anatomy

Journal of Anatomy, EarlyView.
We provide a description of human embryonic cerebral arterial development based on whole‐mount immunostaining, tissue clearing, three‐dimensional (3D) light‐sheet microscopy imaging, and anatomically informed virtual segmentation of human embryos. Findings are compared with adult radiological anatomy. We provide a detailed account of the development of
Eimad Shotar, Raphaël Blain, Aymeric Nadjem, Nermine Saidi, Megumi Inoue, Daniel Smith‐Paredes, Miccaella Vergara, Armelle Lesaunier, Quentin Rappeneau, Joséphine Blevinal, Gérard Couly, Julien Burel, Julien Allard, Kevin Premat, Stéphanie Lenck, Pierre‐Marie Chiaroni, Erwah Kalsoum, Maryne Toupin, Séverine Mazaud‐Guittot, Diane Rebourcet, Paolo Giacobini, Olivier Naggara, Hugo Gortais, Grégoire Boulouis, Alexis Guédon, Philippe Gailloud, Frédéric Glicenstein, Anaïs Favre, Frédéric Clarençon, Yorick Gitton, Alain Chédotal   +30 more
wiley   +1 more source

CTNS Mutations in an American-Based Population of Cystinosis Patients [PDF]

, 1998
SummaryNephropathic cystinosis is an autosomal recessive lysosomal storage disease characterized by renal failure at 10 years of age and other systemic complications. The gene for cystinosis, CTNS, has 12 exons. Its 2.6-kb mRNA codes for a 367–amino-acid
Lemons, Rosemary, McDowell, Geraldine, Shotelersuk, Vorasuk, Larson, David, Guo, Juanru, Bernardini, Isa, Thoene, Jess, Anikster, Yair, Gahl, William A.   +8 more
core   +1 more source

Phase II Study of Posttransplant Cyclophosphamide‐Based Graft‐Versus‐Host Disease Prophylaxis After HLA‐Mismatched Unrelated Donor Reduced Intensity Transplantation: Results From the ACCESS Trial Expansion Cohort

American Journal of Hematology, Volume 101, Issue 11, Page 2827-2835, November 2026.
ABSTRACT Posttransplant cyclophosphamide (PTCy) to prevent graft‐versus‐host disease (GVHD) improves outcomes in recipients of HLA mismatched unrelated donor (MMUD) allogeneic hematopoietic cell transplantation (allo HCT). Outcomes of MMUD HCT using PTCy in patients requiring reduced intensity or non‐myeloablative conditioning (RIC/NMA) are not well ...
Brian C. Shaffer, Monzr M. Al Malki, Antonio Martin Jimenez Jimenez, Joseph Stanek, Stephanie Bo‐Subait, Brent R. Logan, Jianqun Kou, Erin Leckrone, Heather E. Stefanski, Stephen R. Spellman, Craig Malmberg, Medhat Askar, Rachel Cusatis, Dipenkumar Modi, Farhad Khimani, Mehdi Hamadani, Martin Maiers, Rachel Cook, Karen Ballen, Javier Bolaños‐Meade, Uttam Rao, Jordan Milner, Ramzi Abboud, Katarzyna Jamieson, George Carrum, Bhagirathbhai Dholaria, William J. Hogan, Ran Reshef, Satyajit Kosuri, Alison Loren, Karilyn Larkin, Sally Arai, Muna Qayed, Sung Won Choi, Larisa Broglie, Jeffery J. Auletta, Bronwen E. Shaw, Steven M. Devine, Mahasweta Gooptu   +38 more
wiley   +1 more source