Results 141 to 150 of about 2,902,010 (219)

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source

Advanced Molecular Analysis in Hemophilia A in a Single Step: Next Generation Sequencing (NGS) and Copy Number Variation (CNV) Analysis

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Hemophilia A, an X‐linked bleeding disorder caused by pathogenic variants in the F8 gene, requires precise genetic diagnosis for optimal management. Conventional stepwise sequence and copy number variation (CNV) analyses are time‐consuming and may leave some cases unresolved.
Enise Avci Durmusalioglu, Esra Isik, Basak Durmus Ozen, Mehmet Mert Topaloglu, Nihal Karadas, Kaan Kavakli, Melike Sezgin Evim, Tolga Aslan, Erşen Kavak, Adalet Meral Gunes, Funda Tayfun Kupesiz, Alphan Kupesiz, Fahri Sahin, Tahir Atik   +13 more
wiley   +1 more source

Identification and Targeted Correction of a Pathogenic <i>PMP22</i> Deep Intronic Variant. [PDF]

Int J Mol Sci
Chausova P, Murtazina A, Bychkov I, Anisimova I, Ilyushkina A, Mollaeva K, Magomedova A, Tabakov V, Hegay T, Chukhrova A, Polyakov A.   +10 more
europepmc   +1 more source

A Deep Intronic Variant Activates a Pseudoexon in the MTM1 Gene in a Family with X-Linked Myotubular Myopathy. [PDF]

Mol Syndromol, 2020
Fitzgerald J, Feist C, Dietz P, Moore S, Basel D.   +4 more
europepmc   +1 more source

Deep intronic ANK1 variants causing pseudo‐exon inclusion in hereditary spherocytosis: Whole‐genome sequencing and functional assessment

British Journal of Haematology, EarlyView.
Victor Marin, Alexandre Janin, Céline Renoux, Yoann Huguenin, AURAGEN consortium, Stéphanie Dulucq, Louis Lebreton, Philippe Joly, Julian Boutin   +8 more
wiley   +1 more source

Testing for Non‐Severe Heritable Platelet Function Disorders

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Heritable platelet function disorders (HPFD) are a diverse group of bleeding disorders characterised by a primary qualitative defect in platelet function rather than platelet number. HPFD may be broadly categorised according to the severity of bleeding, with Glanzmann thrombasthenia and Bernard Soulier syndrome classically considered severe ...
Kate Burley, Naomi Cornish, Maria Molina Carretero, Sarah K. Westbury   +3 more
wiley   +1 more source

Deep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial Dysplasia. [PDF]

Clin Genet
Stojanovic D, Garczarczyk-Asim D, Vodopiutz J, Janecke AR.   +3 more
europepmc   +1 more source

Genomic variation drives plant flavor diversification

Journal of Integrative Plant Biology, EarlyView.
This review explains how genomic variation shapes plant flavor by altering the biosynthetic and regulatory pathways of key attributes like sweetness, acidity, bitterness, piquancy, astringency, and aroma. It also discusses how multi‐omics, AI‐assisted breeding, and gene editing can translate this knowledge into plants with improved flavor, nutrition ...
Huimin Hu, Yanwei Hao, Yiwei Zhou, Xia Zhang, Rui Xia, Pan Liao   +5 more
wiley   +1 more source

CRISPR-Cas12a for Birt-Hogg-Dubé syndrome: a promising diagnostic tool for deep intronic variant detection. [PDF]

Ann Med Surg (Lond)
Imran SB.
europepmc   +1 more source

Leveraging deep learning models for studying RNA splicing in health and disease

Deep learning models have demonstrated remarkable potential across various domains, including biology. Despite this, scientists and clinicians face significant challenges when using these tools in practice.
Barbosa, Pedro
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