Results 111 to 120 of about 314 (196)

Case Report: Deep intronic PHEX variant causing aberrant splicing identified by whole genome and targeted RNA sequencing in X-linked hypophosphatemia

Frontiers in Endocrinology
X-linked hypophosphatemia (XLH) is a rare, genetically determined disorder of phosphate metabolism, most commonly caused by mutations in the PHEX gene. These mutations lead to overexpression of the phosphaturic hormone FGF23, resulting in renal phosphate
Susanne Spranger, Helene Faust, Helene Faust, Patricia Duffek, Susanna Schubert, Heyko Skladny, Peter Kovacs, Anke Tönjes, Anke Tönjes, Denny Popp   +9 more
doaj   +1 more source

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

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

Optimized TadA‐derived base editors efficiently manipulate mRNA splicing by A‐to‐G and C‐to‐K editing in potato

Journal of Integrative Plant Biology, EarlyView.
Two optimized TadA‐derived base editors efficiently generate diverse splicing variants by targeting specific splice sites in potato. ABSTRACT Pre‐messenger RNA (pre‐mRNA) splicing is a critical mechanism for post‐transcriptional regulation in plants. Through alternative splicing, plants produce diverse transcriptomes and proteomes that finely regulate ...
Kaiyuan Chen, Yan Zhang, Jiuzhou Deng, Lumin Zhang, Huiying Zhou, Yaxin Duan, Enle Xiao, Guangtao Zhu, Chunzhi Zhang   +8 more
wiley   +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

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

Uncovering the role of the PPR protein PHOTOSYSTEM ONE BIOGENESIS FACTOR6 in splicing chloroplast group II introns

Journal of Integrative Plant Biology, EarlyView.
The P‐class pentatricopeptide repeat (PPR) protein PHOTOSYSTEM ONE BIOGENESIS FACTOR (PBF6) forms splicing complexes with other known splicing factors to facilitate chloroplast intron splicing. PBF6 cooperates with other PPR splicing factors to promote the splicing of the same intron through forming respective splicing complexes.
Mengyu Li, Mengwei Sun, Jinlian Lv, Mingming Song, Siyu Lu, Aihong Zhang, Congming Lu   +6 more
wiley   +1 more source

Structural Variations Contribute to Subspeciation and Yield Heterosis in Rice

Plant Biotechnology Journal, EarlyView.
ABSTRACT Yield heterosis has been extensively exploited in hybrid breeding, with intersubspecific hybrids often exhibiting the most pronounced effects. However, developing elite hybrids remains a laborious and time‐consuming process. The genetic basis of heterosis has been debated for over a century, hindered largely by the lack of high‐quality genomes.
Zhiwu Dan, Yunping Chen, Wenchao Huang
wiley   +1 more source

No Cost of Resistance in Wheat Gene Stack Lines Containing 10 Stem Rust Resistance Transgenes

Plant Biotechnology Journal, EarlyView.
ABSTRACT Genetic resistance is the most economical and sustainable approach for crop protection, however, it is regularly overcome by pathogen virulence evolution. Polygenic resistance has greater durability, but unlinked genes are laborious to maintain in breeding programs.
Ming Luo, Aihua Wang, Soma Chakraborty, Shyh Yin Low, Saeid Babaei, Jian Chen, Jianping Zhang, Dhara Bhatt, Brenton Brooks, Oadi Matny, Narayana Upadhyaya, Rohit Mago, Melania Figueroa, Evans Lagudah, Peter Dodds, Brian Steffenson, Michael Ayliffe   +16 more
wiley   +1 more source