Results 101 to 110 of about 145,048 (308)

Differences in the Early In Vitro Development of Preimplantation Human IVF Embryos Which Go on to Develop Congenital Heart Disease

Journal of Cardiovascular Development and Disease
There is a clinical need for improved antenatal diagnosis of congenital heart disease (CHD). Increasing numbers of children are born to parents undergoing fertility treatment.
Sophie Markham, Alison Campbell, Sue Montgomery, Iain M. Dykes   +3 more
doaj   +1 more source

Penggunaan Jurnal Belajar dalam Grup Berbasis Lms untuk Memonitor Belajar Mahasiswa dan Meningkatkan Pemahaman Mahasiswa pada Mata Kuliah Animal Embryology (SBI Program) di P. Biologi Fkip Uns [PDF]

, 2012
Penelitian ini bertujuan untuk untuk mengetahui: 1. Penggunaan jurnal belajar berbasis LMS untuk memonitor kemajuan belajar mahasiswa secara efektif, 2.
Harlita, H. (Harlita), Probosari, R. M. (Riezky)   +1 more
core  

Embryology of the heart [PDF]

Heart, 1999
M K, Davies, A, Hollman
openaire   +2 more sources

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +1 more source

A systematic review and embryological perspective of pluripotent stem cell-derived autonomic postganglionic neuron differentiation for human disease modeling

eLife
Human autonomic neuronal cell models are emerging as tools for modeling diseases such as cardiac arrhythmias. In this systematic review, we compared 33 articles applying 14 different protocols to generate sympathetic neurons and 3 different procedures to
Thomas A Bos, Elizaveta Polyakova, Janine Maria van Gils, Antoine AF de Vries, Marie-José Goumans, Christian Freund, Marco C DeRuiter, Monique RM Jongbloed   +7 more
doaj   +1 more source

Persistent Bilateral [18F]THK5351 and Migrating Unilateral [18F]FDG Uptake in Anti‐LGI1 Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Anti–leucine‐rich glioma‐inactivated 1 encephalitis (LGI1‐E) can cause persistent cognitive deficits, but the mechanisms remain unclear. A 40‐year‐old woman with LGI1‐E presented with subacute cognitive deficits and showed mild left medial temporal lobe (MTL) swelling and fluid‐attenuated inversion recovery (FLAIR) hyperintensity on initial ...
Yusuke Akitomi, Kenichiro Taira, Masanori Kurihara, Kenji Ishibashi, Kenji Ishii, Fumio Suzuki, Aya Midori Tokumaru, Makoto Hara, Atsushi Iwata   +8 more
wiley   +1 more source

Apomixis in Genista salzmannii DC. (Fabaceae) [PDF]

, 1991
Genista apomixis is described for the first time in two populations of Genista salzmannii DC.: the first is diploid and the second one tetraploid. There was no female meiosis and the megaspore mother cell functioned as an unreduced megaspore, which led ...
Diana, Silvana, Villa, Rosalba Sebastiana   +1 more
core  

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source