Results 161 to 170 of about 11,812,623 (407)

Protein O‐glycosylation in the Bacteroidota phylum

FEBS Open Bio, EarlyView.
Species of the Bacteroidota phylum exhibit a unique O‐glycosylation system. It modifies noncytoplasmic proteins on a specific amino acid motif with a shared glycan core but a species‐specific outer glycan. A locus of multiple glycosyltransferases responsible for the synthesis of the outer glycan has been identified.
Lonneke Hoffmanns, Dennis Svedberg, André Mateus   +2 more
wiley   +1 more source

The Italian National Rare Diseases Registry. [PDF]

INTRODUCTION:Rare disease registries are a priority at European level and specific actions are being implemented by the European Commission to support their development.In Italy, a National Registry of rare diseases has been established in 2001 as a ...
Bianchi, Fabrizio, Ferrari, Gianluca, Kodra, Yllka, Nationale Rare Diseases, Registries Collaborating Group, Taruscio, Domenica, Vittozzi, Luciano   +5 more
core  

Deciphering the role of Epstein-Barr virus in the pathogenesis of T and NK cell lymphoproliferations [PDF]

, 2011
Epstein-Barr virus (EBV) is a highly successful herpesvirus, colonizing more than 90% of the adult human population worldwide, although it is also associated with various malignant diseases.
Fox, Christopher P, Rowe, Martin, Shannon-Lowe, Claire   +2 more
core   +2 more sources

Rare Disease Physician Targeting: A Factor Graph Approach [PDF]

arXiv, 2017
In rare disease physician targeting, a major challenge is how to identify physicians who are treating diagnosed or underdiagnosed rare diseases patients. Rare diseases have extremely low incidence rate. For a specified rare disease, only a small number of patients are affected and a fractional of physicians are involved.
arxiv  

Anaemia in Waldmann’s disease: A rare presentation of a rare disease

World Journal of Gastrointestinal Endoscopy, 2015
A 32-year-old female presented with 5-year history of iron deficiency anemia, marked pallor and edema of both lower limbs. Laboratory investigations including complete blood count, blood film, iron studies, lipid profile, ascitic fluid analysis, test of stool for occult blood and alpha 1 anti-trypsin.
Monir Hussein Bahgat, Ahmed Youssef Altonbary, Shahira El-Etreby, Wagdi Elkashef, Mohamed El Sorogy, Jehan A Mazroa   +5 more
openaire   +2 more sources

Knockout of the mitoribosome rescue factors Ict1 or Mtrfr is viable in zebrafish but not mice: compensatory mechanisms underlying each factor's loss

FEBS Open Bio, EarlyView.
Mitochondria contain two mitoribosome rescue factors, ICT1 and MTRFR (C12orf65). ICT1 also functions as a mitoribosomal protein in mice and humans, and its loss is lethal. Although Mtrfr knockout mice could not be generated, knockout zebrafish lines for ict1 and mtrfr were established.
Nobukazu Nameki, Chika Tomisawa, Soichiro Hoshino, Hidehiko Shimizu, Masashi Abe, Sho Arai, Kanako Kuwasako, Naoki Asakawa, Yusuke Inoue, Takuro Horii, Izuho Hatada, Masakatsu Watanabe   +11 more
wiley   +1 more source

RARE DISEASES AND GENETIC DISCRIMINATION [PDF]

, 2011
Rare diseases are characterised by their low prevalence (less than 1/2,000) and their heterogeneity. They affect both children and adults anywhere in the world.
Mariela Yaneva – Deliverska
core  

The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom

Genetics in Medicine, 2019
The translation of genome sequencing into routine health care has been slow, partly because of concerns about affordability. The aspirational cost of sequencing a genome is $1000, but there is little evidence to support this estimate.
Katharina Schwarze, J. Buchanan, J. Fermont, H. Dreau, M. Tilley, John M. Taylor, P. Antoniou, S. Knight, C. Camps, M. Pentony, E. Kvikstad, S. Harris, N. Popitsch, A. Pagnamenta, Anna Schuh, Jenny C. Taylor, S. Wordsworth   +16 more
semanticscholar   +1 more source

The emergence of the cause of rare diseases and rare disease patients’ movement [PDF]

Orphanet Journal of Rare Diseases, 2012
Three features of the cause of rare diseases may be important for the future of the movement. 1. The category of rare diseases was originally created to remedy the problem caused by orphan drugs in the USA. The 1962 Kefauver-Harris amendments to the Food, Drug and Cosmetic Act required the company wanting to market a drug to prove its efficacy. Each
openaire   +2 more sources

Novel CT radiomics models for the postoperative prediction of early recurrence of resectable pancreatic adenocarcinoma: A single‐center retrospective study in China

Journal of Applied Clinical Medical Physics, EarlyView.
Abstract Purpose To assess the predictive capability of CT radiomics features for early recurrence (ER) of pancreatic ductal adenocarcinoma (PDAC). Methods Postoperative PDAC patients were retrospectively selected, all of whom had undergone preoperative CT imaging and surgery. Both patients with resectable or borderline‐resectable pancreatic cancer met
Xinze Du, Yongsu Ma, Kexin Wang, Xiejian Zhong, Jianxin Wang, Xiaodong Tian, Xiaoying Wang, Yinmo Yang   +7 more
wiley   +1 more source