Results 31 to 40 of about 23,458 (249)

Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions

Orphanet Journal of Rare Diseases, 2017
Background Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) type 3, Glanzmann’s thrombasthenia
Arshi Naz, Muhammad Younus Jamal, Samina Amanat, Ikram Din ujjan, Akber Najmuddin, Humayun Patel, Fazle Raziq, Nisar Ahmed, Ayisha Imran, Tahir Sultan Shamsi   +9 more
doaj   +1 more source

HEMOPHILIA C: A RARE CASE REPORT IN WOMAN

Hematology, Transfusion and Cell Therapy, 2021
Background: Factor XI deficiency (Hemophilia C) is a rare bleeding disorder that was first described in 1953 by Rosenthal et al. in patients who experienced severe bleeding after dental extractions.
JAS Lopes, ACAD Santos, TS Espósito, NNS Magalhaes, RM Almeida, ADC Gusmão, OFD Santos, LOW Rodrigues, CM Oliveira, DOW Rodrigues   +9 more
doaj   +1 more source

Characterization of seven novel mutations causing factor XI deficiency

Haematologica, 2007
Background and Objectives Factor XI (FXI) deficiency is a rare autosomal recessive disorder, the main manifestation of which is injury-related bleeding.
Michal Zucker, Ariella Zivelin, Meytal Landau, Ophira Salomon, Gili Kenet, Frederic Bauduer, Michel Samama, Jacqueline Conard, Marie-Hélène Denninger, Abu-Samra Hani, Micheline Berruyer, Donald Feinstein, Uri Seligsohn   +12 more
doaj   +1 more source

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

FEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai, Mizuki Seo, Gyath Karadsheh, Fachrur Rizal Mahendra, Máté Á Demény, Ferenc Győry, János András Mótyán, László Fésüs, Endre Kristóf, Rini Arianti   +9 more
wiley   +1 more source

Cardiac surgery in patients with Hemophilia:is it safe?

Journal of Cardiothoracic Surgery, 2020
Background The life expectancy of hemophiliacs is similar to that of the general population. As a result, the prevalence of age-related cardiovascular diseases has increased.
Amjad Shalabi, Erez Kachel, Alexander Kogan, Leonid Sternik, Liza Grosman-Rimon, Ronny Ben-Avi, Diab Ghanem, Eyalon Ram, Ehud Raanani, Mudi Misgav   +9 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

Impact of Deficiency of Intrinsic Coagulation Factors XI and XII on Ex Vivo Thrombus Formation and Clot Lysis

TH Open, 2019
The contributions of coagulation factor XI (FXI) and FXII to human clot formation is not fully known. Patients with deficiency in FXI have a variable mild bleeding risk, whereas FXII deficiency is not associated with bleeding.
José W. P. Govers-Riemslag, Joke Konings, Judith M. E. M. Cosemans, Johanna P. van Geffen, Bas de Laat, Johan W. M. Heemskerk, Yesim Dargaud, Hugo ten Cate   +7 more
doaj   +1 more source

Salmonella lipopolysaccharide‐containing supported lipid bilayers as platforms to study bacteriophage interactions

FEBS Letters, EarlyView.
We present robust protocols for the preparation of supported lipid bilayers (SLBs) incorporating either Salmonella smooth LPS or outer membrane vesicles (OMVs). We use a combination of quartz crystal microbalance with dissipation (QCM‐D) and fluorescence microscopy to both characterize the SLBs of various compositions and to probe their interactions ...
Hudson P. Pace, Alyssa Borges, Charles Arnaud, Tove Karlsson, Nina K. Bröker, Stefanie Barbirz, Marta Bally   +6 more
wiley   +1 more source

Identification of the plant mitochondrial OrfX protein: A mass spectrometry approach

FEBS Letters, EarlyView.
The mitochondrial genome of plants contains an open reading frame, orfx, which encodes a rare protein that has so far escaped mass spectrometric detection. The protein resembles the c‐subunit of bacterial twin‐arginine‐motif‐dependent protein translocases (TatC).
Matthias Döring, Jan de Jonge, Hans‐Peter Braun, Nils Rugen   +3 more
wiley   +1 more source

Epigenetic heterogeneity and plasticity in therapy‐induced tumor states through single‐cell multi‐omics

Molecular Oncology, EarlyView.
Single‐cell multi‐omics reveals epigenetic heterogeneity across therapy‐adaptive tumor states, including quiescent/dormant, drug‐tolerant persister, and EMT‐like phenotypes. By linking regulatory features with state‐associated biomarkers, these approaches inform biomarker‐guided therapeutic strategies for evolving tumors.
Hee Jung Kim, Hwiyeong Lee, Jin Hong, Daechan Park   +3 more
wiley   +1 more source