Results 151 to 160 of about 1,757,232 (357)

Factor V deficiency with a unique genetic mutation presenting as post-circumcision bleeding in a neonate, A-case-report. [PDF]

Ann Med Surg (Lond), 2022
Sarhan FMA, Al-Jasim A, Alwahsh RHM, Mansour IIA.   +3 more
europepmc   +1 more source

Coagulation and Immunological Investigations in Combined Factor V and Factor VIII Deficiency [PDF]

, 1977
J. C. Giddings, Uri Seligsohn, A. L. Bloom   +2 more
openalex   +1 more source

In situ molecular organization and heterogeneity of the Legionella Dot/Icm T4SS

FEBS Letters, EarlyView.
We present a nearly complete in situ model of the Legionella Dot/Icm type IV secretion system, revealing its central secretion channel and identifying new components. Using cryo‐electron tomography with AI‐based modeling, our work highlights the structure, variability, and mechanism of this complex nanomachine, advancing understanding of bacterial ...
Przemysław Dutka, Yuxi Liu, Stefano Maggi, Debnath Ghosal, Jue Wang, Prashant P. Damke, Stephen D. Carter, Wei Zhao, Sukhithasri Vijayrajratnam, Joseph P. Vogel, Carrie L. Shaffer, Grant J. Jensen   +11 more
wiley   +1 more source

Hereditary combined deficiency of vitamin K–dependent clotting factors presenting as postoperative haemorrhage in a Syrian adolescent: a likely VKCFD type 2 phenotype

European Journal of Case Reports in Internal Medicine
Hereditary combined deficiency of vitamin K–dependent clotting factors (VKCFD) is a rare autosomal recessive disorder characterized by reduced activity of factors II, VII, IX, and X despite normal vitamin K levels.
Mahmoud Alhamadeh Alswij, Mais Musleh, Abdulhalim Mohamed Alyousef, Nizar Alsheekh Ahmad, Abdullatif AlStem, Hadi Ataya   +5 more
doaj   +1 more source

Adaptations to iron deficiency: cardiac functional responsiveness to norepinephrine, arterial remodeling, and the effect of beta-blockade on cardiac hypertrophy. [PDF]

, 2002
BackgroundIron deficiency (ID) results in ventricular hypertrophy, believed to involve sympathetic stimulation. We hypothesized that with ID 1) intravenous norepinephrine would alter heart rate (HR) and contractility, 2) abdominal aorta would be larger ...
Chew, Herbert George, Gibbs, Brett Jason, Hearthway, Megan Lesley, Motsko, Madelyne, Mullendore, Michael Eugene, Premo, Daniel Aaron, Sappington, Andrea, Turner, Lexa Rae, Walker, LeeAnn   +8 more
core   +1 more source

An autosomal dominant, qualitative platelet disorder associated with multimerin deficiency, abnormalities in platelet factor V, thrombospondin, von Willebrand factor, and fibrinogen and an epinephrine aggregation defect [PDF]

, 1996
Catherine P.M. Hayward, GE Rivard, WH Kane, Jeanne Drouin, Shilun Zheng, JC Moore, JG Kelton   +6 more
openalex   +1 more source

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Deficiency of protein C inhibitor in combined factor V/VIII deficiency disease. [PDF]

, 1980
R A Marlar, John H. Griffin
openalex   +1 more source

PICALM::MLLT10 translocated leukemia

FEBS Letters, EarlyView.
This comprehensive review of PICALM::MLLT10 translocated acute leukemia provides an in‐depth review of the structure and function of CALM, AF10, and the fusion oncoprotein (1). The multifaceted molecular mechanisms of oncogenesis, including nucleocytoplasmic shuttling (2), epigenetic modifications (3), and disruption of endocytosis (4), are then ...
John M. Cullen, Antonia C. Nakatsugawa, Natalie Barton, Henry Haines, Gary S. Stein, Janet L. Stein, Daniel S. Wechsler, Jessica L. Heath   +7 more
wiley   +1 more source

Cell wall target fragment discovery using a low‐cost, minimal fragment library

FEBS Letters, EarlyView.
LoCoFrag100 is a fragment library made up of 100 different compounds. Similarity between the fragments is minimized and 10 different fragments are mixed into a single cocktail, which is soaked to protein crystals. These crystals are analysed by X‐ray crystallography, revealing the binding modes of the bound fragment ligands.
Kaizhou Yan, Mathew Stanley, Olawale Raimi, Andrew T. Ferenbach, Helge C Dorfmueller, Daan M. F. van Aalten   +5 more
wiley   +1 more source