Results 111 to 120 of about 308,307 (292)
Haematologica, 2018 Inherited platelet disorders are a heterogeneous group of rare diseases, caused by inherited defects in platelet production and/or function. Their genetic diagnosis would benefit clinical care, prognosis and preventative treatments.
José M. Bastida +21 more
doaj +1 more source
Ion channels: structural basis for function and disease. [PDF]
, 1996 Ion channels are ubiquitous proteins that mediate nervous and muscular function, rapid transmembrane signaling events, and ionic and fluid balance. The cloning of genes encoding ion channels has led to major strides in understanding the mechanistic basis
Goldstein, SA
core +1 more source
Demography and disorders of the French Bulldog population under primary veterinary care in the UK in 2013 [PDF]
, 2018 Background Despite its Gallic name, the French Bulldog is a breed of both British and French origin that was first recognised by The Kennel Club in 1906. The French Bulldog has demonstrated recent rapid rises in Kennel Club registrations and is now (2017)
A Agresti +36 more
core +2 more sources
Molecular Oncology, EarlyView.AZD9291 has shown promise in targeted cancer therapy but is limited by resistance. In this study, we employed metabolic labeling and LC–MS/MS to profile time‐resolved nascent protein perturbations, allowing dynamic tracking of drug‐responsive proteins. We demonstrated that increased NNMT expression is associated with drug resistance, highlighting NNMT ...
Zhanwu Hou +5 more
wiley +1 more source
Molecular Oncology, EarlyView.In this exploratory study, we investigated the relationship between the gut microbiota and outcome in patients with metastatic hormone receptor‐positive breast cancer, treated in a randomized clinical trial with chemotherapy alone or chemotherapy in combination with immune checkpoint blockade.
Andreas Ullern +7 more
wiley +1 more source
Congenital Afibrinogenemia: Anaesthetic Implications of a Rare Inherited Coagulation Disorder
The Indian Anaesthetists' Forum, 2015 Congenital afibrinogenemia is a very rare inherited bleeding disorder that results from fibrinogen deficiency and is associated with bleeding manifestations of varying severity. A 21 Year-old, diagnosed case of congenital afibrinogenemia, was admitted to
Archana Kalaichelvam, Jui Lagoo
doaj
Identification of two point mutations associated with inherited antithrombin deficiency
Thrombosis JournalBackground 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 +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 +4 more
doaj +1 more source
A synthetic benzoxazine dimer derivative targets c‐Myc to inhibit colorectal cancer progression
Molecular Oncology, EarlyView.Benzoxazine dimer derivatives bind to the bHLH‐LZ region of c‐Myc, disrupting c‐Myc/MAX complexes, which are evaluated from SAR analysis. This increases ubiquitination and reduces cellular c‐Myc. Impairing DNA repair mechanisms is shown through proteomic analysis.
Nicharat Sriratanasak +8 more
wiley +1 more source
Acta Médica Portuguesa, 1998 The authors present a case of congenital afibrinogenemia. A review of the literature is made, and some aspects of this rare inherited coagulation disorder are suggested and commented on.
P Pastilha +7 more
doaj +1 more source