Categories of genes haploinsufficient in reduced-nutrient conditions.

NIAID Data Ecosystem2026-03-06 收录

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Categories of genes haploinsufficient in reduced-nutrient conditions.

创建时间：

2010-10-07

Haploinsufficiency of interstitial genes between TMPRSS2 and ERG contributes to prostate tumorigenesis

前列腺癌分子病理学

基因单倍剂量不足

TMPRSS2-ERG gene fusions that are frequently identified in prostate cancer can be generated either through chromosomal translocation or via interstitial deletion. The latter mechanism deletes an inter

NIAID Data Ecosystem30

Characterising and Predicting Haploinsufficiency in the Human Genome

基因单倍剂量不足

遗传变异注释

Haploinsufficiency, wherein a single functional copy of a gene is insufficient to maintain normal function, is a major cause of dominant disease. Human disease studies have identified several hundred

NIAID Data Ecosystem20

Integrated Genomic Analysis Implicates Haploinsufficiency of Multiple Chromosome 5q31.2 Genes in De Novo Myelodysplastic Syndromes Pathogenesis

骨髓增生异常综合征

基因单倍剂量不足

Deletions spanning chromosome 5q31.2 are among the most common recurring cytogenetic abnormalities detectable in myelodysplastic syndromes (MDS). Prior genomic studies have suggested that haploinsuffi

Figshare2016-01-18 更新00

Modeling Partial Monosomy for Human Chromosome 21q11.2-q21.1 Reveals Haploinsufficient Genes Influencing Behavior and Fat Deposition

基因单倍剂量不足

脂肪代谢调控

Haploinsufficiency of part of human chromosome 21 results in a rare condition known as Monosomy 21. This disease displays a variety of clinical phenotypes, including intellectual disability, craniofac

Figshare2016-01-18 更新20

datasheet1_Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes.pdf

蛋白质稳定性

基因单倍剂量不足

Missense variants are among the most studied genome modifications as disease biomarkers. It has been shown that the “perturbation” of the protein stability upon a missense variant (in terms of absolut

NIAID Data Ecosystem10

Categories of genes haploinsufficient in reduced-nutrient conditions.

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