Results 331 to 340 of about 838,049 (387)

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Targeted long-read nanopore sequencing as a complementary approach for detecting STRC variants and distinguishing the STRCP1 pseudogene. [PDF]

Sci Rep
Moteki H, Nishio SY, Usami SI.
europepmc   +1 more source

GbWAKL20 Phosphorylates GbNFYB8 to Modulate Verticillium Wilt Resistance in Cotton

Advanced Science, EarlyView.
Wall‐associated receptor‐like kinases (WAKLs) play pivotal roles in extracellular–intracellular signal transduction. Upon sensing Verticillium dahliae infestation at the plasma membrane, GbWAKL20 accumulates and transmits signals to the nucleus via endoplasmic reticulum‐mediated Golgi vesicle transport.
Guilin Wang, Qingxin Si, Zhiguo Chen, Zhe Yu, Zhan Guo, Lu Wang, Weixi Li, Wangzhen Guo   +7 more
wiley   +1 more source

KIT-Mutant Melanoma: Understanding the Pathway to Personalized Therapy. [PDF]

Cancers (Basel)
Kaveti A, Sullivan RJ, Tsao H.
europepmc   +1 more source

Aberrant Splicing of <i>Dnm1l</i> Impairs Cardiac Bioenergetics and Mitochondrial Dynamics in Myotonic Dystrophy Type I (DM1). [PDF]

Circ Genom Precis Med
Adesanya O, Nabie P, Betancourt A, Kalsotra A.   +3 more
europepmc   +1 more source

Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield. [PDF]

Hum Mutat
Bonamici L, Artuso L, Marino M, Toss A, Sidoti D, Barbieri E, Venturelli M, Marchi I, Pescucci C, Manfredini R, Papi L, Dominici M, Cortesi L, Tenedini E, Tagliafico E.   +14 more
europepmc   +1 more source

Clinical and molecular genetic analysis of a Chinese patient with Cockayne syndrome caused by ERCC8 gene synonymous variant at splicing site and exon 1 deletion. [PDF]

Orphanet J Rare Dis
Bie X, Liu L, Liu L, Zhang Z, Guo M, Xie Z, Zhang Y, Su J, Li D.   +8 more
europepmc   +1 more source

A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs. [PDF]

HGG Adv
Bonde LD, Holling T, Alawi M, El Beheiry AA, Mir Hassani Z, Bachand F, Abdelrazek IM, Kutsche K.   +7 more
europepmc   +1 more source

The primate Major Histocompatibility Complex as a case study of gene family evolution. [PDF]

Elife
Fortier AL, Pritchard JK.
europepmc   +1 more source