Results 101 to 110 of about 15,514 (222)

Substrate for Thyroid Hormone Synthesis: Biochemistry, Evolution, and Physiology

The FASEB Journal, Volume 40, Issue 8, 30 April 2026.
Two proposed sequence of events for thyroxine formation in patients expressing mutant thyroglobulin. (A) (1) TSH stimulation drives expression of misfolded TG. (2) Unremitting ER stress. (3) Stress‐induced cell death. (4) Dead thyrocytes release their contents. (5) The contents become iodinated. (6) Forming thyroxine.
Crystal Young, Peter Arvan
wiley   +1 more source

Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG)

JA Clinical Reports, 2017
Background Glycosylation is one of the major posttranslational modifications of proteins and it is essential for proteins to obtain normal biological functions.
Wataru Sakai, Yusuke Yoshikawa, Yasuyuki Tokinaga, Michiaki Yamakage   +3 more
doaj   +1 more source

Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient [PDF]

, 2018
Summary: Congenital disorders of glycosylation (CDG) are a family of multisystem inherited disorders caused by defects in the biosynthesis of N- or O-glycans.
Ballhausen, D., Bonafé, L., Hanquinet, S., Henry, H., Kern, I., Newman, C., Rimella-Le-Huu, A., Roulet-Perez, E., Superti-Furga, A.   +8 more
core  

From variome to phenome : pathogenesis, diagnosis and management of ectopic mineralization disorders [PDF]

, 2015
Ectopic mineralization - inappropriate biomineralization in soft tissues - is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mortality.
De Vilder, eva, Vanakker, Olivier
core   +2 more sources

Zebrafish models for congenital disorders of glycosylation (CDG): a systematic review

Orphanet Journal of Rare Diseases
Glycosylation is a post-translational modification of proteins that involves the addition of glycan groups and is essential for their proper functionality. This highly complex process affects 70% of all human proteins.
N. Gandoy-Fieiras, M. I. Quiroga, L. Sánchez   +2 more
doaj   +1 more source

Characterization of Cell Glycocalyx with Mass Spectrometry Methods. [PDF]

, 2019
The cell membrane plays an important role in protecting the cell from its extracellular environment. As such, extensive work has been devoted to studying its structure and function.
Lebrilla, Carlito B, Li, Qiongyu, Wong, Maurice, Xie, Yixuan   +3 more
core   +2 more sources

ALG1-congenital disorder of glycosylation: report of clinical and genetic features of three new cases and review of literature

Egyptian Journal of Medical Human Genetics
Background The ALG1-congenital disorder of glycosylation condition is a rare autosomal recessive disorder with approximately 80 patients reported worldwide up to now.
Faeze Khaghani, Nafiseh Pourbadakhshan, Ehsan Ghayoor Karimiani, Farah Ashrafzadeh, Peyman Eshraghi   +4 more
doaj   +1 more source

SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis

JCI Insight
As a major component of intracellular trafficking, the coat protein complex II (COPII) is indispensable for cellular function during embryonic development and throughout life.
Nina Bögershausen, Büsranur Cavdarli, Taylor H. Nagai, Miroslav P. Milev, Alexander Wolff, Mahsa Mehranfar, Julia Schmidt, Dharmendra Choudhary, Óscar Gutiérrez-Gutiérrez, Lukas Cyganek, Djenann Saint-Dic, Arne Zibat, Karl Köhrer, Tassilo E. Wollenweber, Dagmar Wieczorek, Janine Altmüller, Tatiana Borodina, Dilek Kaçar, Göknur Haliloğlu, Yun Li, Christian Thiel, Michael Sacher, Ela W. Knapik, Gökhan Yigit, Bernd Wollnik   +24 more
doaj   +1 more source

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, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

Zika virus: New clinical syndromes and its emergence in the western hemisphere [PDF]

, 2016
Zika virus (ZIKV) had remained a relatively obscure flavivirus until a recent series of outbreaks accompanied by unexpectedly severe clinical complications brought this virus into the spotlight as causing an infection of global public health concern.
Brazilian Medical Genetics Society–Zika Embryopathy Task Force, Centers for Disease Control and Prevention, Centers for Disease Control and Prevention, Centers for Disease Control and Prevention, Collaborative Cross Consortium, European Centre for Disease Prevention and Control, European Centre for Disease Prevention and Control, Helen M. Lazear, Michael S. Diamond, T. C. Pierson   +9 more
core   +3 more sources