Results 81 to 90 of about 1,474,438 (314)

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

FEBS Letters, EarlyView.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas, Porter L. Tomsick, Alicia M. Pickrell, Paul D. Morton   +3 more
wiley   +1 more source

PLASMIC score to aid diagnosis of aHUS: an analysis of C5 inhibitor clinical trials and the PINC AI™ healthcare database

BMC Nephrology
Background Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) that can lead to end organ damage and death without treatment.
Miguel G. Uriol-Rivera, Frank R. Ernst, John N. Booth, Àngels Comas, Christoph Gasteyger, Ioannis Tomazos, Ching Lum, Yan Wang, Ana I. Ávila   +8 more
doaj   +1 more source

Expert Consensus for the Diagnosis and Treatment of Bartter Syndrome in China(2023)

罕见病研究
Bartter syndrome (BS) is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemia and hypochloremic metabolic alkalosis, and normal or low blood pressure.
Chinese Society of Rare Diseases, Rare Diseases Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Bartter Syndrome Consensus Working Group   +4 more
doaj   +1 more source

A rare cranial disease: Prolactinoma-associated moyamoya syndrome [PDF]

Moyamoya disease is a rare chronic progressive cerebrovascular disease. The etiology of moyamoya disease has not been established yet. If an underlying cause is detected, moyamoya disease is called moyamoya syndrome.
Meryem Can, Erkingül Shugaiv, Ayberk Bayramgil, İrem İşlek   +3 more
core   +1 more source

Moyamoya Disease, Which is Rare in Infancy: A Case Report

, 2023
Moyamoya disease etiology is an undetermined vasculopathy and is mainly thought to affect the Internal Carotid Artery and Wills circle. An 8-month-old patient without any underlying disease was referred to our hospital with sudden extreme right ...
Derya Bako, Edin Botan, Ayşen Durak, Merve Boyraz   +3 more
core   +1 more source

Network divergence analysis identifies adaptive gene modules and two orthogonal vulnerability axes in pancreatic cancer

Molecular Oncology, EarlyView.
Tumors contain diverse cellular states whose behavior is shaped by context‐dependent gene coordination. By comparing gene–gene relationships across biological contexts, we identify adaptive transcriptional modules that reorganize into distinct vulnerability axes.
Brian Nelson, Lyanne Delgado‐Coka, Natalia Marchenko, Luisa F. Escobar‐Hoyos, Kenneth R. Shroyer, Alisa Yurovsky, Trey Ideker, Gábor Balázsi, Thomas MacCarthy, Scott Powers   +9 more
wiley   +1 more source

Population PK–PD Modeling of Danicopan Add‐On Therapy in Participants With Paroxysmal Nocturnal Hemoglobinuria Treated With Ravulizumab or Eculizumab

CPT: Pharmacometrics & Systems Pharmacology
Danicopan is a first‐in‐class orally administered complement factor D inhibitor, approved as an add‐on therapy to ravulizumab or eculizumab for the treatment of clinically significant extravascular hemolysis in patients with paroxysmal nocturnal ...
Jun Chen, Feng Yang, Hanbin Li, Rajendra Pradhan, Stephan Ortiz   +4 more
doaj   +1 more source

A Comprehensive Study of the Effects by Sequence Truncation within Inverted Terminal Repeats (ITRs) on the Productivity, Genome Packaging, and Potency of AAV Vectors

Microorganisms
One of the primary challenges in working with adeno-associated virus (AAV) lies in the inherent instability of its inverted terminal repeats (ITRs), which play vital roles in AAV replication, encapsidation, and genome integration.
Yinxing Chen, Shiliang Hu, William Lee, Noel Walsh, Kayla Iozza, Neil Huang, Gregory Preston, Lauren M. Drouin, Nannan Jia, June Deng, Matthias Hebben, Jing Liao   +11 more
doaj   +1 more source

Pre‐analytical optimization of cell‐free DNA and extracellular vesicle‐derived DNA for mutation detection in liquid biopsies

Molecular Oncology, EarlyView.
Pre‐analytical handling critically determines liquid biopsy performance. This study defines practical best‐practice conditions for cell‐free DNA (cfDNA) and extracellular vesicle–derived DNA (evDNA), showing how processing time, storage conditions, tube type, and plasma input volume affect DNA integrity and mutation detection.
Jonas Dohmen, Lucrezia De Santis, Bret M. Stephens, Vincent Bernard, Jörg C. Kalff, Lara Braun, Phillipp Leyendecker, Johannes Röttgen, Daniel Weissinger, Anirban Maitra, Paola A. Guerrero, Alexander Semaan   +11 more
wiley   +1 more source

Establishment of an α-thalassemia mouse model through fetal liver cell transplantation and analysis of hematological parameters

Scientific Reports
Clinically, α-thalassemia is stratified into mild, intermediate, and severe forms, differentiated by the degree of anemia severity. Specifically, severe α-thalassemia manifests in homozygous individuals, characterized by a profound α globin deficit.
Xin Xu, Wencheng Fu, Wenrui Ye
doaj   +1 more source