DPFF‐1 transcription factor deficiency causes the aberrant activation of MPK‐1 and meiotic defects in the Caenorhabditis elegans germline
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DOI: 10.1002/dvg.23072
Abstract: The d4 family of transcription factors consists of three members in mammals. DPF1/neuro‐d4 is expressed mainly in neurons and the peripheral nervous system, and is important for brain development. DPF2/requiem/ubi‐d4 is expressed ubiquitously and presumably… read more here.
Keywords: transcription; meiotic defects; dpff transcription; transcription factor ... See more keywords
Prophylactic treatment of bleeding episodes in children
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DOI: 10.1111/hae.13500
Abstract: Hereditary factor X (FX) deficiency (FXD) affects 1:500 000‐1:1 000 000 people worldwide. A novel, high‐purity plasma‐derived FX concentrate (pdFX) is available in the United States and European Union as replacement therapy for FXD, but… read more here.
Keywords: fxd; hereditary factor; deficiency fxd; pdfx ... See more keywords
Congenital coagulation factor X deficiency: Genetic analysis of five patients and functional characterization of mutant factor X proteins
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DOI: 10.1111/hae.13606
Abstract: Congenital factor X (FX) deficiency is a rare bleeding disorder that is inherited as an autosomal recessive trait. In this study, a genetic analysis of the FX gene was performed in five families with this… read more here.
Keywords: amino acid; acid substitutions; factor deficiency; factor ... See more keywords
A review of the pharmacokinetics, efficacy and safety of high‐purity factor X for the prophylactic treatment of hereditary factor X deficiency
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DOI: 10.1111/hae.14570
Abstract: Hereditary factor X (FX) deficiency (FXD) is a rare autosomal recessive bleeding disorder. Plasma‐derived FX (pdFX) is a high‐purity FX concentrate approved in the United States and Europe for the treatment and prophylaxis of bleeding… read more here.
Keywords: factor; hereditary factor; high purity; factor deficiency ... See more keywords
Global epidemiology of factor XI deficiency: A targeted review of the literature and foundation reports
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DOI: 10.1111/hae.14687
Abstract: Hereditary factor XI (FXI) deficiency is a rare coagulation disorder that may result in excessive bleeding requiring intervention to restore haemostasis. read more here.
Keywords: factor; epidemiology factor; factor deficiency; global epidemiology ... See more keywords
Acquired factor X deficiency in a patient with multiple myeloma: a rare case highlighting the significance of comprehensive evaluation and the need for antimyeloma therapy for bleeding diathesis
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DOI: 10.1136/bcr-2019-230249
Abstract: Factor X deficiency is a rare bleeding disorder that can be associated with life-threatening bleeding events. Factor X deficiency can either be inherited or acquired. Acquired cases of factor X deficiency can be seen in… read more here.
Keywords: bleeding; multiple myeloma; case; factor deficiency ... See more keywords
Autoimmune Factor V Deficiency That Took 16 Years to Diagnose due to Pseudodeficiency of Multiple Coagulation Factors
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DOI: 10.1155/2021/4657501
Abstract: A 70-year-old man presented to our hospital with intramuscular hemorrhage in the right thigh. He had exhibited a tendency to bleed for the last 16 years and had visited several medical institutions, but no diagnosis… read more here.
Keywords: coagulation; method; autoimmune factor; factor ... See more keywords
Detection and Gene Mutation Analysis of Three Variations in Two Unrelated Chinese Hereditary Coagulation Factor XI Deficiency Families
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DOI: 10.1159/000526043
Abstract: Introduction: Three variations including a novel F11 gene variation were detected in two unrelated Chinese families with coagulation factor XI deficiency, and their possible pathogenesis was elucidated. Methods: The genomic DNA of the probands’ pedigrees… read more here.
Keywords: three variations; two unrelated; unrelated chinese; coagulation factor ... See more keywords
[H Factor Deficiency: A Case with an Atypical Presentation].
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DOI: 10.20344/amp.10301
Abstract: We report a case of an 18-month-old boy with H factor deficiency with atypical presentation: recurrent acute otitis media and several maternal family members with autoimmune disorders (vitiligo, thyroiditis and immune trombocytopenia). Blood tests revealed… read more here.
Keywords: atypical presentation; factor; factor deficiency; case ... See more keywords
Acquired Factor V Deficiency Associated with CFPM Administration.
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DOI: 10.7754/clin.lab.2019.190240
Abstract: BACKGROUND Acquired factor V deficiency (AFVD) caused by Factor V (FV) inhibition is a rare event, characterized by prolonged prothrombin time and activated partial thromboplastin time. To date, various factors were reported as triggers for… read more here.
Keywords: administration; deficiency associated; factor deficiency; acquired factor ... See more keywords