Results 111 to 120 of about 7,368 (202)
The rate and tract length of gene conversion between duplicated genes [PDF]
, 2011 Interlocus gene conversion occurs such that a certain length of DNA fragment is non-reciprocally transferred (copied and pasted) between paralogous regions. To understand the rate and tract length of gene conversion, there are two major approaches.
INNAN Hideki +3 more
core +2 more sources
Perm Medical JournalShwachman – Diamond syndrome is a hereditary ribosomopathy which is manifested by exocrine pancreatic insufficiency, hematological disorders, stunted growth and bone deformities. The pathology is caused by mutations in the SBDS gene.
N. Grymova, V. Shadrina, E. Furman
semanticscholar +1 more source
Comparative genomic hybridization on microarray (a-CGH) in constitutional and acquired mosaicism may detect as low as 8% abnormal cells [PDF]
, 2011 . Background: The results of cytogenetic investigations on unbalanced chromosome anomalies, both constitutional and acquired, were largely improved by comparative genomic hybridization on microarray (a-CGH), but in mosaicism the ability of a-CGH to ...
Lo Curto F +6 more
core
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 +18 more
core
BMS1 Is Mutated in Aplasia Cutis Congenita [PDF]
, 2013 Aplasia cutis congenita (ACC) manifests with localized skin defects at birth of unknown cause, mostly affecting the scalp vertex. Here, genome-wide linkage analysis and exome sequencing was used to identify the causative mutation in autosomal dominant ...
Marneros, Alexander G.
core +2 more sources
Penguraian Parasetamol oleh Sel dan Protein Ekstraselular Khamir Candida Tropicalis dan Rhodotorula Minuta [PDF]
, 2017 Yeast can be used as cell model to study toxicity in mammalian cell. In the previous study we demonstrated that yeast Candida tropicalis was able to metabolize analgesic drug paracetamol causing oxidative stress.
Julistiono, H. (Heddy) +2 more
core +1 more source
Indian Pediatrics Case ReportsShwachman–Diamond Syndrome (SDS) is a rare inherited autosomal recessive multisystem disorder, with features of pancreatic exocrine insufficiency, skeletal malformations, immunodeficiency, and bone marrow failure having a high risk of myeloid ...
Vagisha Sharma +3 more
semanticscholar +1 more source
Association of isochromosome (7)(q10) in Shwachman–Diamond syndrome with the severity of cytopenia
Clinical Case Reports, 2018 Key Clinical Message We report two male siblings with SDS. They have the same compound heterozygous mutations. Only one of the siblings acquired cytogenetic abnormality of i(7q) 2 years after diagnosis, became transfusion‐dependent, and underwent ...
Yuko Shimosato +10 more
doaj +1 more source
Alterations in the ribosomal machinery in cancer and hematologic disorders
Journal of Hematology & Oncology, 2012 Ribosomes are essential components of the protein translation machinery and are composed of more than 80 unique large and small ribosomal proteins. Recent studies show that in addition to their roles in protein translation, ribosomal proteins are also ...
Shenoy Niraj +6 more
doaj +1 more source
Imunodeficiências primárias dos fagócitos: prognóstico e terapêutica [PDF]
, 2015 Projeto de Pós-Graduação/Dissertação apresentado à Universidade Fernando Pessoa como parte dos requisitos para obtenção do grau de Mestre em Ciências FarmacêuticasAs imunodeficiências primárias são a consequência de anomalias genéticas que ocorrem no ...
Coelho, Joana Maria Ferreira
core