Results 81 to 90 of about 10,192,906 (282)

Severe congenital factor X deficiency with intracranial bleeding in two siblings

, 2004
Congenital factor X deficiency is a rare autosomal recessive disorder that usually presents with variable bleeding tendency, prolonged prothrombin time and partial thromboplastin time.
R Ors, F Orhan, A Tastekin, Ermiş, Bahri   +3 more
core   +1 more source

RNA‐related functions of BRCA2 in transcription, replication, and genome stability

FEBS Letters, EarlyView.
Beyond its role in homologous recombination, BRCA2 regulates R‐loop homeostasis, DNA–RNA hybrid resolution, RNA polymerase II dynamics, and transcriptional activation. Disruption of any of these functions can contribute to genome instability, inflammatory signaling, and tumorigenesis. BRCA2 is a central tumor suppressor protein best known for its roles
Lucia Alvaro‐Aranda, Sreerama Chaitanya Sridhara, Aura Carreira   +2 more
wiley   +1 more source

DUA KASUS ACQUIRED PROTHROMBIN COMPLEX DEFICIENCY DENGAN PERDARAHAN INTRAKRANIAL : LAPORAN KASUS

JKS (Jurnal Kedokteran Syiah Kuala), 2017
Abstrak. Acquired Prothrombin Complex Deficiency (APCD) merupakan perdarahan spontan yang disebabkan oleh penurunan aktivitas faktor koagulasi yang tergantung vitamin K (faktor II, VII, IX dan X), sedangkan aktivitas faktor koagulasi lain, kadar ...
Jufitriani Ismy
doaj   +1 more source

The heterodimeric amino acid transporters (HAT) of the SLC7/SLC3 family: A structure−function relationships and relevance to human pathology

FEBS Letters, EarlyView.
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise, Tiziano Mazza, Raffaella Scanga, Lara Console, Michele Galluccio, Cesare Indiveri   +5 more
wiley   +1 more source

Review Dental Treatment of Patients with Congenital Bleeding Disorders

Česká Stomatologie a Praktické Zubní Lékařství, 2014
Objectives: The commonest congenital bleeding disorders in childhood are hemophilia, von Willebrand disease and deficiency of factor XI. Disease is characterized by a deficient of coagulability. It is a gonosomal recessive condition.
J. Papež, K. Chleborád, T. Dostálová
doaj   +1 more source

Membrane composition and thermodynamic identity as boundaries of life for synthetic cell research

FEBS Letters, EarlyView.
What makes a cell a cell? The boundary of a living cell is not just a wall. Read as a Markov blanket, the membrane separates internal from external states, generating identity and non‐equilibrium order. Can this identity be rebuilt from scratch in a synthetic cell?
Caterina Presutti, Bert Poolman
wiley   +1 more source

A Case of Haemorrhages caused by Multiple Myeloma Induced Factor Deficiencies: A Bleeding Enigma [PDF]

Journal of Clinical and Diagnostic Research
A 74-year-old male patient presented with anaemia, thrombocytopenia, and extensive haemorrhages over both thighs and back. A coagulation work-up revealed markedly elevated Prothrombin Time (PT) and activated Partial Thromboplastin Time (aPTT).
Abhijith Lakshman, Febe Renjitha Suman, Gramani Arumugam Vasugi, Uma Lakshmi Ramdoss   +3 more
doaj   +1 more source

Partial gene deletion in a family with factor X deficiency

, 1989
The presence of gene lesions in coagulation factor X (FX, Stuart factor) was investigated in patients with FX deficiency or an FX abnormality (FX Friuli).
BERNARDI, Francesco, MARCHETTI, Giovanna, Patracchini P, VOLINIA, Stefano, Simoni P, Girolami A., GEMMATI, Donato   +6 more
core   +1 more source

Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Ward, N.J., Buckley, S.M.K., Ward, NJ, Chan, J.K.Y., Waddington, S.N., Rahim, A.A., Waddington, SN, Rahim, AA, Chan, JK, Mckay, T.R., Howe, S.J., Howe, SJ, McKay, TR, Natalie J. Ward, Ahad A. Rahim, Steven J. Howe, Jerry K.Y.Chan, Suzanne M.K. Buckley, Simon N. Waddington, Tristan R. McKay   +20 more
core   +1 more source

Inhibition of dipeptidyl peptidase 7 impairs lysophagy in LLOMe‐treated HepG2 cells

FEBS Letters, EarlyView.
DPP7 inhibition delays ubiquitin‐dependent lysophagy by attenuating ubiquitin accumulation and the recruitment of SQSTM1 and LC3 to damaged lysosomes, resulting in delayed clearance of damaged lysosomes and impaired restoration of lysosomal homeostasis. Created using FigureLabs (Certificate ID: FL‐PUB‐20260922‐Z99XNX).
Na Yeon Park, Inho Kwon, Yong Hwan Kim, Ji‐Eun Bae, Joon Bum Kim, Seong Hyun Kim, Sungho Maeng, Doo Sin Jo, Dong‐Hyung Cho   +8 more
wiley   +1 more source