Results 91 to 100 of about 473,993 (259)

Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene

Oman Medical Journal, 2011
This report describes a 6 year old girl with late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the PHOX2B gene.
Nabil Al Macki, Said Al Hanshi, Mohammed Al Ghafri, Ismail Al Rashdi   +3 more
doaj  

NSD2 Coordinates the Neurogenic‐to‐Gliogenic Transition via H3K36me2‐Dependent Activation of the EGFR‐ERK Pathway

Advanced Science, EarlyView.
NSD2 coordinates the neurogenic‐to‐gliogenic transition in the developing neocortex through H3K36me2‐dependent activation of EGFR–ERK signaling. Loss of NSD2 disrupts astroglial and oligodendroglial development, whereas ERK activation rescues gliogenic defects in vitro and in vivo.
Hanxue Chen, Mengyuan Li, Lin Hou, Bin Yin, Boqin Qiang, Ran Gao, Pengcheng Shu, Xiaozhong Peng   +7 more
wiley   +1 more source

Pre-weaning performance evaluation of a multibreed Aberdeen Angus × Nellore population using different genetic models Avaliação do desempenho na pré desmama de uma população bovina multirracial Aberdeen Angus × Nelore utilizando diferentes modelos genéticos

Revista Brasileira de Zootecnia, 2010
This work aimed at estimating the genetic effects that affect the pre-weaning performance of animals from multibreed crosses. In order to do so, it was used information of the weight at weaning of 79,521 animals, sired by 1,020 bulls and 61,898 cows from
Jader Silva Lopes, Paulo Roberto Nogara Rorato, Tomás Weber, Ronyere Olegário de Araújo, Mariana de Almeida Dornelles, Juliana Grigolleto Comin   +5 more
doaj   +1 more source

Willow grouse autosomal heterozygous sites

, 2015
A vcf file containing the autosomal heterozygous sites of the willow grouse individual. It was generated by the default samtools mpileup and bcftools pipeline. Filtering was performed by vcffilter (from the vcflib suite: https://github.com/ekg/vcflib) to
Páll Melsted (3320031), Magnússon, Kristinn P., Kozma, Radoslav, Melsted, Páll, Höglund, Jacob, Radoslav Kozma (3320025), Jacob Höglund (249793), Kristinn P. Magnússon (3320028)   +7 more
core   +1 more source

Transposable Element–Driven PIEZO Mutation Enhances Locust Flight in Plateau Hypoxia

Advanced Science, EarlyView.
Why transposable elements (TEs) persisted or expanded in genomes remains a mystery. Using integrated analysis of TE macro‐ and microevolution in locusts, our results showed that thousands of TE insertions promoted widespread adaptive variation. Subfamilies of candidate adaptive TEs amplified and reshaped species‐level genomic architecture.
Xuanzhao Li, Ying Liu, Longsheng Xing, Xianliang Huang, Yingming Sun, Lei Yue, Yuze Zhang, Huilong Du, Bing Chen   +8 more
wiley   +1 more source

The Association of Methylenetetrahydrofolate Reductase C677T Polymorphism, Serum 5-Methyltetrahydrofolate, and Homocysteine Levels with Adenomyosis: A Cross-Sectional Study in an Indonesian Population

International Journal of Women's Health
Martin Hermawan,1 Dian Tjahyadi,1 Anita Rachmawati,1 Wiryawan Permadi,1 Hanom Husni Syam,1 Anom Suardika,2 Ruswana Anwar11Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Hasan Sadikin General Teaching ...
Hermawan M, Tjahyadi D, Rachmawati A, Permadi W, Syam HH, Suardika A, Anwar R   +6 more
doaj  

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy
Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions.
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
doaj   +1 more source

A phased genome of the highly heterozygous 'Texas' almond uncovers patterns of allele-specific expression linked to heterozygous structural variants

The vast majority of traditional almond varieties are self-incompatible, and the level of variability of the species is very high, resulting in a high-heterozygosity genome.
Eduardo, Iban, Tomás, Carlos de, Vicient, Carlos M., Castanera, Raúl, Casacuberta, Josep M., Aranzana, Maria José, Arús, Pere, Ruggieri, Valentino   +7 more
core   +1 more source

Rock ptarmigan autosomal heterozygous sites

, 2015
A vcf file containing the autosomal heterozygous sites of the rock ptarmigan individual. It was generated by the default samtools mpileup and bcftools pipeline.
Páll Melsted (3320031), Magnússon, Kristinn P., Kozma, Radoslav, Melsted, Páll, Höglund, Jacob, Radoslav Kozma (3320025), Jacob Höglund (249793), Kristinn P. Magnússon (3320028)   +7 more
core   +1 more source

Trafficking Deficiency of TMEM175 Variants in Parkinson's Disease Pathogenesis and the Prospects of Precision Medicine

Advanced Science, EarlyView.
This study identifies that the PD‐associated TMEM175‐L156P variant disrupts lysosomal ion channel trafficking by causing aberrant endoplasmic reticulum retention. A “chaperone–agonist” bifunctional small molecule restores TMEM175‐L156P lysosomal localization and channel function, thereby alleviating PD‐relevant cellular phenotypes and highlighting a ...
Ting Luo, Yu He, Shuyao Li, Haoyu Guan, Ruili Cui, Yu Shi, Zhongwen Jiang, Siyu Wang, Xuan Li, Jiyuan Li, Mei Hu, Yupeng Zhou, Beisha Tang, Yanyan Zhang, Zhaobing Gao, Yu Zhou, Zhenhua Liu, Ping Li   +17 more
wiley   +1 more source