Results 61 to 70 of about 39,677 (355)

AGAPIR: A Novel PIWI‐Interacting RNA Enhancing Post‐Decompression Angiogenesis in Degenerative Cervical Myelopathy

Advanced Science, EarlyView.
The restoration of blood flow following surgical decompression for degenerative cervical myelopathy (DCM) significantly contributes to the amelioration of neurological deficits. This study identifies AGAPIR, an angiogenesis‐associated PIWI‐interacting RNA, enhances angiogenesis and motor function recovery post‐spinal cord decompression in a mouse model
Yongheng Xie, Yiling Peng, Tianyu Qin, Cuimei Chen, Zhenxiao Ren, Naibo Feng, Chungeng Liu, Songlin Peng, Houqing Long   +8 more
wiley   +1 more source

A Coding SNP in GmPM30 Enhances Soybean Salinity Tolerance and Yield through the GmLEA1‐GmPM30‐GmLEC1 Module

Advanced Science, EarlyView.
A natural variation in soybean PM30, GmPM30‐HapT, confers greater salt tolerance than GmPM30‐HapC via stronger GmLEA1‐GmPM30‐GmLEC1 interactions. Pyramiding their elite haplotypes yields additive gains in salt tolerance and yield, establishing a novel workflow linking evolutionary genomics, molecular mechanisms, and breeding applications via the module
Shiyu Huang, Yuhan Xia, Jingting Yang, Yujun Si, Xue Chen, Hao Zhang, Tianshi Liu, Wenyu Zheng, Xin Chen, Zhongjuan Zhao, Xiaojian Zheng, Qing Lu, Shuo Li, Fengning Xiang   +13 more
wiley   +1 more source

Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA

Scientific Reports
Lysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal function.
Viviana Vargas-López, Luisa F. Prada, Carlos J. Alméciga-Díaz   +2 more
doaj   +1 more source

Fucosidosis: clinical and molecular findings of Turkish patients

The Turkish Journal of Pediatrics, 2022
Background. Fucosidosis is a rare, autosomal recessive lysosomal storage disease caused by alpha L- fucosidase enzyme deficiency in all tissues. Here, we identify a patient with a novel homozygous pathogenic variant and atypical clinical findings ...
Merve Emecen Şanlı, Serap Uysal
doaj   +1 more source

Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells. [PDF]

, 2016
Urea cycle disorders are incurable enzymopathies that affect nitrogen metabolism and typically lead to hyperammonemia. Arginase deficiency results from a mutation in Arg1, the enzyme regulating the final step of ureagenesis and typically results in ...
Angarita, Stephanie Ak, Byrne, James A, Cederbaum, Stephen D, Chang, Katherine M, Gilmore, W Blake, Hermann, Kip, Lam, Alex K, Lee, Patrick C, Lipshutz, Gerald S, Pyle, April D, Schoenberg, Benjamen E, Tang, Jonathan K, Truong, Brian, Vega-Crespo, Agustin, Wininger, Austin E   +14 more
core   +3 more sources

Marker Metabolite‐Based Multi‐Omics Analysis Identifies New Loci Controlling Thousand Seed Weight in Brassica Napus

Advanced Science, EarlyView.
Marker metabolite‐based multi‐omics (genome, transcriptome, and metabolome) analysis is conducted firstly to unravel the genetic basis of thousand seed weight (TSW) in Brassica napus. The released metabolite‐QTL‐gene network represents a valuable genetic resource, and the newly validated BnaTGA6 is a promising target for the improvement of TSW in ...
Long Li, Zhitao Tian, Xiaowei Wu, Zengdong Tan, Xu Han, Yuyan Xiang, Jie Chen, Hu Zhao, Wei Chen, Liang Guo, Xuan Yao   +10 more
wiley   +1 more source

Angelman syndrome and isovaleric acidemia: What is the link?

Molecular Genetics and Metabolism Reports, 2015
We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both
Alix Lambrecht, Samia Pichard, Hélène Maurey, Nuria Garcia Segarra, Séverine Drunat, Cécile Acquaviva-Bourdain, Sandrine Passemard, Jean-François Benoist, Anne-Laure Fauret-Amsellem, Manuel Schiff   +9 more
doaj   +1 more source

Reverse Phase-High Performance Liquid Chromatography: An Alternative to Expensive Tandem Mass Spectrometry Screening for Amino Acid Profiling in Dried Blood Spot in Resource Constrained Diagnostic Settings [PDF]

Journal of Krishna Institute of Medical Sciences University, 2021
Background: Altered patterns of amino acid profiles are observed in various pathological conditions including nutrition related disorders, cancer, diabetes, urea cycle defects, mitochondrial respiratory chain disorders, and aminoacidopathies.
Prajna P Shetty , Ysphaneendramallimoggala , Brijesh Naik , Leslie Lewis , Nalini K , Pragna Rao   +5 more
doaj  

Treatment of inborn errors of metabolism [PDF]

Molecular Cytogenetics, 2014
Inborn errors of metabolism (IEM), though individually rare are collectively common. Average incidence of 50+ common IEMs is considered to be approx 1 in 1,000 live births. With annual birth rate of approximately 25 million babies in India, we can expect at least 25,000 babies being born with IEM in India and hence it is a significant burden to the ...
openaire   +3 more sources

A Forward Genetics Strategy for High‐Throughput Gene Identification via Precise Image‐Based Phenotyping of an Indexed EMS Mutant Library

Advanced Science, EarlyView.
The GeneHunter‐Gene‐Level Association (GH‐GLA) pipeline enables high‐throughput gene identification in an indexed EMS population of wheat cultivar KN9204. It identifies 5905 trait‐associated wheat genes and validates key regulators of kernel weight and spikelet architecture via gene editing and haplotype analysis.
Haojie Wang, Fujun Sun, Zeyu Shi, Yufeng Yang, Yi Ding, Tengteng Zhang, Caihong Zhao, Jingzhong Xie, Yaqian Zhang, Caihua Li, Wenqiang Tang, Junming Li, Xigang Liu, Shusong Zheng, Ni Jiang, Fei He, Shuzhi Zheng   +16 more
wiley   +1 more source