Results 121 to 130 of about 309,203 (310)

Identification of two point mutations associated with inherited antithrombin deficiency

Thrombosis Journal
Background Antithrombin (AT) is a serine protease inhibitor which exerts its anticoagulant effect through binding to serine residues in the active centers of procoagulant serine proteases.
Shiue-Wei Lai, Chia-Yau Chang, Hwei-Jen Lee, Yeu-Chin Chen   +3 more
doaj   +1 more source

Familial dyskeratotic comedones: A rare entity

Indian Dermatology Online Journal, 2016
Familial dyskeratotic comedones is an inherited disorder with distinctive clinical features and a disease course that is refractory to treatment. It is clinically characterized by numerous, discrete, disseminate, hyperkeratotic papules and comedones.
Raghu Ram Maddala, Ashok Ghorpade, Mercy Polavarpu, Satish A Adulkar, Manbendra Das   +4 more
doaj   +1 more source

Haematalogical investigations in children [PDF]

, 2009
The haematology laboratory is able to perform a number of tests to help establish the cause of illness in children. The full blood count (FBC, also known as a complete blood count, CBC) is one of the most basic blood tests performed on children ...
Chalmers, E.A., Halsey, C.
core  

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

FEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz, Mihály Mérey, Rebeka Vásárhelyi, Ramóna Pék, Victor Imburchia, László Henn, Adrián Kószó, Nicholas D. Lakin, Ivan Ahel, Sébastien Huet, Ágnes Czibula, Gyula Timinszky   +11 more
wiley   +1 more source

Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation. [PDF]

, 2020
BackgroundCongenital myasthenic syndromes (CMSs) are a group of inherited disorders of neuromuscular transmission that may be presynaptic, synaptic, or postsynaptic.
Anderson, Kendall J, Clark, Leigh Anne, Evans, Jacquelyn M, Guo, Ling T, Knipe, Marguerite, Shelton, G Diane, Sturges, Beverly K, Tsai, Kate L, Vernau, Karen M, Williams, D Colette, Winger, Kathryn, Zwueste, Danielle M   +11 more
core  

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

Destiny or Free Will Decision? A Life Overview from the Perspective of an Informational Modeling of ConsciousnessPart II: Attitude and Decision Criteria, Free Will and Destiny [PDF]

, 2018
As it was shown in the Part I of this work, the driving of our life is determined by series of YES/NO - type elemental decision, which is actually the information unit (Bit), so we operate actually in an informational mode.
Gaiseanu, Florin
core  

Organizing the interface—Plasma membrane architecture and receptor dynamics in virus‐cell interactions

FEBS Letters, EarlyView.
Plasma membranes contain dynamic nanoscale domains that organize lipids and receptors. Because viruses operate at similar scales, this architecture shapes early infection steps, including attachment, receptor engagement, and entry. Using influenza A virus and HIV‐1 as examples, we highlight how receptor nanoclusters, multivalent glycan interactions ...
Jan Schlegel, Christian Sieben
wiley   +1 more source

A diagnostic and management odyssey of a rare case of rhizomelic chondrodysplasia punctata

Journal of the Pakistan Medical Association
Rhizomelic chondrodysplasia punctata (RCDP) is one of the rare inherited peroxisomal disorders that belongs to the heterogeneous group of chondrodysplasias presenting with proximal shortening of the limbs and distinctive punctate calcifications of bones
Qurat Ul Ain, Alia Halim, Asma Shabbir , Amina Marriam   +3 more
doaj   +1 more source

Epigenetic blind spots – the role of DNA methylation dynamics in stem cell‐based models of embryogenesis

FEBS Letters, EarlyView.
Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil, Anna Corrà, Annalisa Scapolatiello, Chengxiang Qiu, Gianluca Amadei   +4 more
wiley   +1 more source