Kim, Yoo-Mi Choi, Jin-Ho Lee, Beom-Hee Kim, Gu-Hwan Kim, Kyung-Mo Yoo, Han-Wook
Published in
Orphanet Journal of Rare Diseases
BackgroundGlycogen storage disease (GSD) Ia, caused by mutations in the glucose-6-phosphatase (G6PC) gene, is characterized by hepatomegaly, hypoglycemia, lactic acidosis, dyslipidemia, and hyperuricemia. This study aimed to investigate clinical and molecular features and late complications in Korean patients with GSD Ia.ResultsFifty-four Korean pa...
McAviney, Jeb Mee, Johanna Fazalbhoy, Azharuddin Du Plessis, Juan Brown, Benjamin T.
Published in
BMC Musculoskeletal Disorders
BackgroundThere is a paucity of literature regarding the conservative management of adult scoliosis. The authors review and summarize the literature from 1967 to 2018 on the clinical outcomes of spinal brace/orthosis use in this subgroup of the population.MethodsCINAHL, Embase, CENTRAL, PubMed and PEDro were searched from database inception to the ...
Conde Royo, Diego Juarez Salcedo, Luis Miguel Dalia, Samir
Review on Breast implant-associated anaplastic large cell lymphoma with clinics and the genes involved
Cristiano, Luigi
Analysis of the EEF1G/PPP6R3 fusion involving EEF1G (alias, eukaryotic translation elongation factor 1 gamma) gene and PPP6R3 (alias, protein phosphatase 6 regulatory subunit 3) gene. It was detected in lung squamous cell carcinoma.
Tsouraki, Dimitra Kontos, Christos K
CEACAM19 is a member of the CEACAM subfamily of genes, described for the first time by Scorilas et al. (2003). Very few studies have been conducted so far concerning the CEACAM19 gene. Consequently, very little is known about it, and its function in either physiological or pathological cellular processes remains poorly elucidated. Here, we present ...
Huret, Jean-Loup
Review on PRXL2C, with data on DNA, on the protein encoded, and where the gene is implicated.
Cristiano, Luigi
Eukaryotic translation elongation factor 1 delta, alias EEF1D, is a protein-coding gene that plays a role in the elongation step of translation and considering its importance it is found frequently overexpressed in human cancer cells. This review collects the data on DNA/RNA, on the protein encoded and on the diseases where EEF1D is involved.
Tunçer, Sinem Çamlica, Rümeysa Yilmaz, Idris
Aldehyde dehydrogenase 1A1 (ALDH1A1) is a member of the ALDH gene superfamily. Aldehyde dehydrogenases (ALDHs) are responsible for the metabolism of aldehydes (exogenous and endogenous) through NAD(P)+-dependent oxidation to their corresponding carboxylic acids or CoA esters. Different biological functions have been attributed to the different ALDH...
Kemp, Kirsi Mertanen, Reija Lääperi, Mitja Niemi-Murola, Leila Lehtonen, Lasse Castren, Maaret
Published in
Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine
BackgroundNonspecific complaint (NSC) is a common presenting complaint in the emergency setting, especially in the elderly population. Individual studies have shown that it is associated with significant morbidity and mortality. This prognostic systematic review draws a synthesis of reported outcomes for patients presenting with NSC and compares th...
Juárez Salcedo, Luis Miguel Conde Royo, Diego Dalia, Samir
Review on Fibroblastic reticular cell tumor, with data on clinics, and the genes involved.
