Results 61 to 70 of about 2,262,684 (231)

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, EarlyView.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome

BMC Nephrology, 2021
Background Dent disease is an X-linked form of progressive renal disease. This rare disorder was characterized by hypercalciuria, low molecular weight (LMW) proteinuria and proximal tubular dysfunction, caused by pathogenic variants in CLCN5 (Dent ...
Nan Duan, Chenwei Huang, Lu Pang, Shiju Jiang, Wenshuang Yang, Haixia Li   +5 more
doaj   +1 more source

Pyoderma gangrenosum: a presenting sign of myelodysplastic syndrome in undiagnosed Fanconi anemia [PDF]

, 2019
A 26-year-old man with a history of congenital bilateral microtia, unilateral renal agenesis, left aural atresia, and right external auditory canal occlusion admitted for right rib cartilage graft harvest and left ear re-construction.
Kandula, Prasanthi, Le, Cuong, Shah, Kishan M., Wolverton, Jay E., Wolverton, Stephen E.   +4 more
core  

Can radiosensitivity associated with defects in DNA repair be overcome by mitochondrial-targeted antioxidant radioprotectors [PDF]

, 2014
Radiation oncologists have observed variation in normal tissue responses between patients in many instances with no apparent explanation. The association of clinical tissue radiosensitivity with specific genetic repair defects (Wegner's syndrome, Ataxia ...
Berhane, H, Bernard, M, Epperly, MW, Greenberger, JS, Rhieu, BH, Shinde, A, Skoda, EM, Wipf, P   +7 more
core   +1 more source

Age Deceleration and Reversal Gene Patterns in Dauer Diapause

Aging Cell, EarlyView.
The dauer diapause is a naturally occurring extraordinarily long‐lived alternative C. elegans larval stage that, upon dauer exit, lives a normal adult life with full reproductive capacity. Here, we define the processes underlying the slowed aging during dauer and the rejuvenation during exit.
Khrystyna Totska, João C. V. V. Barata, Walter Sandt, David H. Meyer, Björn Schumacher   +4 more
wiley   +1 more source

UK recommendations for chimerism testing and monitoring following allogeneic haematopoietic stem cell transplantation (HSCT): Best practice consensus guidelines from the British Society for Blood and Marrow Transplant and Cellular Therapies (BSBMTCT), NHS England Genomic Laboratory Hub (GLH) Haematological Malignancies Working Group, UK Cancer Genetics Group (UKCGG) and the UK National External Quality Assessment Service for Leucocyte Immunophenotyping (UK NEQAS LI)

British Journal of Haematology, EarlyView.
Summary In allogeneic haematopoietic stem cell transplantation (HSCT), important clinical decisions depend upon assessment of chimerism, including immunosuppressant dosing and donor lymphocyte infusions (DLI), which in turn can have major impacts on disease control, graft‐versus‐host disease (GVHD), immunity and ultimately patient survival.
Andrew Clark, Hazel Clouston, Kanchan Rao, Najeem Folarin, Josu De la Fuente, Angela Hamblin, Eduardo Olavarria, Debbie Richardson, Polly Talley, Victoria Potter, Justin Loke, Terri McVeigh, John Snowden   +12 more
wiley   +1 more source

Heavy-Chain Diseases and Myeloma-Associated Fanconi Syndrome: an Update

Mediterranean Journal of Hematology and Infectious Diseases, 2018
The heavy chain diseases (HCDs) are rare B-cell malignancies characterized by the production of a monoclonal immunoglobulin heavy chain without an associated light chain.
R. Ria, F. Dammacco, A. Vacca
semanticscholar   +1 more source

Mapping Dental Care for Children and Adolescents With Rare Diseases: A Brazilian Multicentre Study

Community Dentistry and Oral Epidemiology, EarlyView.
ABSTRACT Objectives To describe the landscape of dental care provided by specialised centres for children and adolescents with rare diseases (RDs) in the state of Minas Gerais, southeastern Brazil. Methods A retrospective cross‐sectional study was conducted involving individuals aged 0–18 years with a confirmed diagnosis of a RD who received care at ...
Heloisa Vieira Prado, Rayssa Maria Soalheiro de Souza, Gabriella Guerra Freire Gabrich Fonseca, Kamila Rodrigues Junqueira Carvalho, Anna Vitória Mendes Viana Silva, Iasmin Fonseca Tolentino Mascarenhas, Beatriz Rezende Bergo, Hanna Larissa Barbosa Soares, Bárbara Mendes de Jesus, Layanne Ribeiro Ferreira e Sobral, Kélisson Duarte Reis, Késia Lara dos Santos Marques, Fabiana Sodré de Oliveira, Daniella Reis Barbosa Martelli, José Alcides Almeida de Arruda, Benjamin P. J. Fournier, Denise Vieira Travassos, Soraia Macari, Célia Regina Moreira Lanza, Ana Cristina Borges‐Oliveira, Hercílio Martelli‐Júnior, Tarcília Aparecida Silva   +21 more
wiley   +1 more source

Telomere length in inherited bone marrow failure syndromes

Haematologica, 2015
Telomeres are long DNA repeats and a protein complex at chromosome ends that are essential for genome integrity. Telomeres are very short in patients with dyskeratosis congenita due to germline mutations in telomere biology genes.
Blanche P. Alter, Neelam Giri, Sharon A. Savage, Philip S. Rosenberg   +3 more
doaj   +1 more source