Results 71 to 80 of about 1,137 (152)

Transcriptomic analysis identifies the shared diagnostic biomarkers and immune relationship between Atherosclerosis and abdominal aortic aneurysm based on fatty acid metabolism gene set

Frontiers in Molecular Biosciences
Background:Epidemiological research has demonstrated that there is a connection between lipid metabolism disorder and an increased risk of developing arteriosclerosis (AS) and abdominal aortic aneurysm (AAA).
Xuefeng Gu, Zhongxian Yu, Tianwei Qian, Yiqi Jin, Guoxiong Xu, Jiang Li, Jianfeng Gu, Ming Li, Ke Tao   +8 more
doaj   +1 more source

Targeting VEGF‐A in an Immunocompetent Orthotopic Mouse Model of Mesenchymal Glioblastoma Improves Antitumorigenicity and Decreases Proinflammatory Response in Normal Brain Tissue after Fractionated Radiotherapy

Advanced Therapeutics, Volume 8, Issue 2, February 2025.
Targeting the vascular endothelial growth factor (VEGF) yields relevant clinical benefits when added to radio(chemo)therapy in glioblastoma patients including reduced radiation‐induced necrosis (radionecrosis) of normal brain tissue. Transcriptome analyses of an orthotopic glioblastoma mouse model reveals that concomitant VEGF‐targeting can prevent ...
Alexander Edward Nieto, Daniel Felix Fleischmann, Kristian Unger, Valerie Albrecht, Jessica Maas, Horst Zitzelsberger, Claus Belka, Martin Proescholdt, Kirsten Lauber, Maximilian Niyazi, Michael Orth   +10 more
wiley   +1 more source

Case report: maple syrup urine disease with a novel DBT gene mutation

BMC Pediatrics, 2019
Background Maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase (BCKD) complex.
Wei Feng, Jinfu Jia, Heyang Guan, Qing Tian   +3 more
doaj   +1 more source

Diagnostik der Ahornsirupkrankheit (MSUD) mit besonderer Betrachtung der Mutationsanalyse der BCKDHA-, BCKDHB- und DBT-Gene

, 2010
Fend, Sarah
core   +3 more sources

A comprehensive description of the circulating tumor cell: BCKDHB.

The circulating tumor cell (CTC) is most likely responsible for effective metastasis (1-3). We measured total transcription in circulating tumor cells isolated from the blood of women with stage IV breast cancer to define at the molecular level the most significant changes that accompany dissemination in a migrating tumor cell population (4) and ...
openaire   +2 more sources

Molecular and Bio-informatics Analysis of BCKDHA, BCKDHB, DLD and DBT Gene Mutations in Azerbaijani Patients with Maple Syrup Urine Disease

Journal of Multidisciplinary Applied Natural Science
Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes, which encode subunits of the branched-chain α-keto acid dehydrogenase complex. Understanding the genetic basis of MSUD is essential for accurate diagnosis, genetic counseling, and therapeutic interventions ...
Lala Samaddin Huseynova, Aysel Rafig Hashimova, Shahla Rahid Eyvazova, Raya Rustam Hagverdiyeva, Sevda Tariel Huseynova   +4 more
openaire   +1 more source

Different Gene Preferences of Maple Syrup Urine Disease in the Aboriginal Tribes of Taiwan

Pediatrics and Neonatology, 2014
Maple syrup urine disease (MSUD) is a rare inborn error of metabolism caused by a deficiency of the branched-chain α-ketoacid dehydrogenase (BCKD) complex. Mutations in any one of the three different genes encoding for the BCKD components, namely, BCKDHA,
Jia-Woei Hou, Tsann-Long Hwang
doaj   +1 more source

Chilean patients genotypic profile with Maple Syrup Urine Disease

, 2019
Introdução: A Doença da Urina do Xarope de Bordo é uma doença hereditária do metabolismo dos aminoácidos de cadeia ramificada, de caráter autossômico recessivo.
Campanholi, Diana Ruffato Resende
core   +1 more source

Recurrent Encephalopathy During Febrile Illnesses in a 6-Year-Old Boy

Global Pediatric Health, 2018
Acute onset of encephalopathy is often due to infections or intoxications, but a high index of suspicion should exist for metabolic or autoimmune causes particularly in recurrent cases.
Eliza Szuch MD, Jeanna Auriemma MD
doaj   +1 more source

Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach

Orphanet Journal of Rare Diseases
Maple Syrup Urine Disease (MSUD) disease is a defect in the function of the Branched-chain 2-ketoacid dehydrogenase complex (BCKDH). It is caused by pathogenic biallelic variants in BCKDHA, BCKA decarboxylase, or dihydrolipoamide dehydrogenase. The brain
Noushin Rostampour, Setila Dalili, Hossein Moravej, Zhila Afshar, Negar Yazdani, Seyedeh Tahereh Mousavi, Parastoo Rostami, Daniel Zamanfar, Maryam Yahay, Abdolhossein Nikravesh, Zahra Beyzaei, Mohamad Ahangar Davoodi, Atefeh Sedaghat, Tahora Hakemzadeh, Ali Talea   +14 more
doaj   +1 more source