Results 101 to 110 of about 166,041,693 (206)

Advances in FGF/FGFR Signaling: Implications for Disease and Therapy

MedComm, Volume 7, Issue 9, September 2026.
The FGF/FGFR signaling is indispensable for the maintenance of physiological homeostasis and governs multiple biological processes, including embryonic development, bone metabolism, angiogenesis, and neurogenesis, whereas aberrant hyperactivation of this pathway drives the progression of malignancies and autoimmune disorders, including inflammatory ...
Miaoyu Song, Xi Liu, Yang Xiao, Yongsheng Li, Huakan Zhao   +4 more
wiley   +1 more source

The efficacy of high pressure liquid chromatography (HPLC) in detecting congenital glycosylation disorders (CDG)

Türk Biyokimya Dergisi
Congenital disorders of glycosylation (CDG) are a family of rare inherited metabolic disorders. This study aimed to examine the carbohydrate-deficient transferrin (CDT) screening results of 1,328 patients with suspected CDG by using transferrin-high ...
Ozgen Ozge, Güdek Kılıç Fatma, Gedikbaşı Asuman, Balcı Mehmet Cihan, Karaca Meryem, Durmuş Aslı, Tutu Belkıs, Körbeyli Hüseyin Kutay, Atalar Fatmahan, Gökçay Gülden Fatma   +9 more
doaj   +1 more source

High‐Content CRISPR Screening: Methods and Applications

MedComm, Volume 7, Issue 9, September 2026.
High‐content CRISPR screening represents a paradigm shift in functional genomics, moving beyond traditional survival‐based readouts to enable multidimensional mapping of genotype–phenotype relationships. This review systematically outlines the methodological evolution of this approach, detailing advances in perturbation modalities, delivery systems ...
Yike Zhang, Yimeng Zhang, Xudong Tang, Xinyu Deng, Yitian Zhou, Yanfeng Wu, Jianhua Luo   +6 more
wiley   +1 more source

Modeling Congenital Disorders of N-Linked Glycoprotein Glycosylation in Drosophila melanogaster

Frontiers in Genetics, 2018
Protein glycosylation, the enzymatic addition of N-linked or O-linked glycans to proteins, serves crucial functions in animal cells and requires the action of glycosyltransferases, glycosidases and nucleotide-sugar transporters, localized in the ...
Anna Frappaolo, Stefano Sechi, Tadahiro Kumagai, Angela Karimpour-Ghahnavieh, Michael Tiemeyer, Michael Tiemeyer, Maria Grazia Giansanti   +6 more
doaj   +1 more source

Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1

Muscle &Nerve, Volume 74, Issue S1, Page S58-S64, September 2026.
ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno, Mohammad Nazim, Ruchen Zhang, Paniz Farshadyeganeh, Mikako Ito, Bisei Ohkawara   +5 more
wiley   +1 more source

A Study on Glycosylation pattern of Serum Transferrin in patients with clinically suspected Congenital Glycosylation disorders [PDF]

, 2017
INTRODUCTION: Congenital disorder of glycosylation (CDG) is an inborn error of metabolism due to defective glycosylation of glycoproteins/glycolipids. It is a multisystem disorder with wide range of clinical presentations.
Preethi, A
core  

Impact of Institutional Protocol on Urinary Catheter Outcome Measures in Orthopedic Children Treated With Epidural Analgesia

Pediatric Anesthesia, Volume 36, Issue 9, Page 1089-1095, September 2026.
ABSTRACT Background Epidural analgesia is commonly used for pain control after major lower‐limb orthopedic surgery in children, but it is associated with a risk of postoperative urinary retention. Consequently, urinary catheters are often placed and left in situ for the full duration of epidural analgesia, despite the potential risks of prolonged ...
Idan Katz, Tomer Talmy, Dor Barami, Tal S. Beckmann, Barry Danino, Yotam Lior, Margaret Ekstein   +6 more
wiley   +1 more source

Normal transferrin glycosylation does not rule out severe ALG1 deficiency

JIMD Reports
ALG1‐CDG is a rare, clinically variable metabolic disease, caused by the defect of adding the first mannose (Man) to N‐acetylglucosamine (GlcNAc2)‐pyrophosphate (PP)‐dolichol to the growing oligosaccharide chain, resulting in impaired N‐glycosylation of ...
Inez Bosnyak, Mustafa Sadek, Wasantha Ranatunga, Tamas Kozicz, Eva Morava   +4 more
doaj   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Clinical Variability and Genotype‐Driven Outcomes in CHRND‐Related Congenital Myasthenic Syndrome

European Journal of Neurology, Volume 33, Issue 9, September 2026.
Clinical variability in CHRND‐related congenital myasthenic syndrome ranges from isolated ocular involvement to severe neonatal‐onset disease with respiratory insufficiency. In a multicenter cohort of nine patients, ocular symptoms represented the core phenotype, while disease severity was influenced by genotype and presumed residual acetylcholine ...
David Muhmann, Göknur Haliloğlu, Maria Antonia Grimalt, Damjan Osredkar, Ana Vesperinas Castro, Silvia Cerezo Corredera, Angela Abicht, Adalet Elçin Yıldız, Johann Böhm, Ulrike Schara‐Schmidt, Anja Troha Gergeli, Berta Estevez‐Arias, Elena Cortes Vicente, Andres Nascimento, Adela Della Marina, Daniel Natera‐de Benito, Andreas Roos   +16 more
wiley   +1 more source