Results 131 to 140 of about 48,352 (276)

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

Clinical Genetics, EarlyView.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic, Dorota Garczarczyk‐Asim, Julia Vodopiutz, Andreas R. Janecke   +3 more
wiley   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, EarlyView.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

The how and why of lncRNA function: An innate immune perspective. [PDF]

, 2020
Next-generation sequencing has provided a more complete picture of the composition of the human transcriptome indicating that much of the "blueprint" is a vastness of poorly understood non-protein-coding transcripts.
Carpenter, Susan, Covarrubias, Sergio, Robinson, Elektra K   +2 more
core  

Processing of Pacbio Iso-seq sequences v1

, 2017
This protocol is to further process the sequences generated from ICE and Quiver.
openaire   +1 more source

Bony fish genomes: Status and gaps

Journal of Fish Biology, EarlyView.
Abstract Bony fish constitute an exceptionally species‐rich group of aquatic vertebrates, comprising more than 95% of all living fish. The adaptive processes on the diversity of environments they inhabit make them a highly diverse group from taxonomic, morphological and evolutionary standpoints.
Noelia Pérez‐Pereira, Carmen Bouza, Paulino Martínez, Diego Robledo   +3 more
wiley   +1 more source

African rices genome projects : GLASS and irigin : [P129] [PDF]

, 2014
The GLASS project (GLAberrima ASSembly), jointly between IRD and AfricaRice, aims to sequence de novo the two African NERICA parents, CG14 and TOG5681, representing the two opposite of the glaberrima variability.
Ghesquière, Alain, Lorieux, Mathias, Monat, Cécile, Ruiz, Manuel, Sabot, François, Tranchant-Dubreuil, Christine   +5 more
core  

Dissecting the genetic basis of climatic adaptation in wild relatives (Malus baccata) for climate‐resilient apple breeding

Journal of Integrative Plant Biology, EarlyView.
This comprehensive map of genetic variation in wild apple (Malus baccata) and set of key genes associated with adaptation to temperature, precipitation, and soil properties establishes a foundation for breeding climate‐resilient apple cultivars and conserving the genetic resources of wild crop relatives.
Ying Su, Yani Hao, Xuejing Cao, Lin Wang, Zhiqi Xu, Fan Zhang, Zhiyao Ma, Xu Wang, Jiacui Li, Tianrong Fan, Ruoyan Zhao, Zhongqi Liu, Wenrui Wang, Yingchun Zhang, Xuanwen Yang, Sifan Yang, Dajiang Wang, Kun Wang, Simiao Sun, Zichen Li, Wen Tian, Yanming Sun, Zhao Liu, Yanshuai Xu, Hua Xiao, Yanling Peng, Xiaodong Xu, Ruirui Liu, Xinmin Tian, Yongfeng Zhou, Yuan Gao   +30 more
wiley   +1 more source

Pangenome analysis reveals the genetic mechanism underlying high‐altitude adaptation in Qinghai–Xizang (Tibet) Plateau Rhododendron

Journal of Integrative Plant Biology, EarlyView.
Pan‐genome analysis reveals that high‐altitude Rhododendron species resist alpine cold stress by rapidly sensing and engaging the chilling response pathway and genes that directly and indirectly protect the plant from UV radiation. Heritable genomic features such as long terminal repeats contribute to the adaptive diversification of Rhododendron ...
Haoyang Zhou, Zhongping Xu, Fanhuang Zeng, Haiyu Sang, Zhenhua Liu, Miao Sun, Qiang Fu, Kaige Zhao, Daming Tan, Manzhu Bao, Shuangxia Jin, Xiuqun Liu   +11 more
wiley   +1 more source

Genomic and secondary metabolites of the marine cyanobacterium Capilliphycus salinus ALCB114379

Journal of Phycology, EarlyView.
Abstract Assembling high‐quality genomes from underexplored environments can be helpful for understanding microbial diversity and identifying novel species. The Cyanobacterium type strain Capilliphycus salinus ALCB114379 is a representative of Oscillatoriales order isolated from a supralittoral zone of the south Atlantic Ocean in Brazil, an ecotone ...
Gabriel Schimmelpfeng Passos, Rafael Barty Dextro, Mauricio Junior Machado, Anderson Miguel Teixeira Feitosa, Núbia Pereira Silva, Renata Beatriz Cruz, Ana Paula Dini Andreote, Ernani Pinto, Marli Fatima Fiore   +8 more
wiley   +1 more source

Maize Genome Assembly with PacBio Reads

BIO-PROTOCOL, 2022
Ying Hu, Marcio Resende Jr.
openaire   +1 more source