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期刊名:Human genomics

缩写:HUM GENOMICS

ISSN:1473-9542

e-ISSN:1479-7364

IF/分区:4.3/Q1

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共收录本刊相关文章索引1109
Clinical Trial Case Reports Meta-Analysis RCT Review Systematic Review
Classical Article Case Reports Clinical Study Clinical Trial Clinical Trial Protocol Comment Comparative Study Editorial Guideline Letter Meta-Analysis Multicenter Study Observational Study Randomized Controlled Trial Review Systematic Review
Bajinder S Dhanoa,Tiziana Cogliati,Akhila G Satish et al. Bajinder S Dhanoa et al.
The Kelch-like (KLHL) gene family encodes a group of proteins that generally possess a BTB/POZ domain, a BACK domain, and five to six Kelch motifs. BTB domains facilitate protein binding and dimerization. The BACK domain has no known functi...
Ruth L Seal,Mathew W Wright,Kristian A Gray et al. Ruth L Seal et al.
The HUGO Gene Nomenclature Committee has approved gene symbols for the majority of protein-coding genes on the human reference genome. To adequately represent regions of complex structural variation, the Genome Reference Consortium now incl...
Stephen Randal Voss,Srikrishna Putta,John A Walker et al. Stephen Randal Voss et al.
Hox genes encode transcription factors that regulate embryonic and post-embryonic developmental processes. The expression of Hox genes is regulated in part by the tight, spatial arrangement of conserved coding and non-coding sequences. The ...
Stephanie M Gritz,Richard A Radcliffe Stephanie M Gritz
Na(+)/K(+)-ATPase alpha 2 (Atp1a2) is an integral plasma membrane protein belonging to the P-type ATPase family that is responsible for maintaining the sodium (Na(+)) and potassium (K(+)) gradients across cellular membranes with hydrolysis ...
Robert C Grant,Wigdan Al-Sukhni,Ayelet E Borgida et al. Robert C Grant et al.
We sequenced 11 germline exomes from five families with familial pancreatic cancer (FPC). One proband had a germline nonsense variant in ATM with somatic loss of the variant allele. Another proband had a nonsense variant in PALB2 with somat...
C George Priya Doss,N Nagasundaram,Chiranjib Chakraborty et al. C George Priya Doss et al.
Background: Recent reports suggest the role of nonsynonymous single nucleotide polymorphisms (nsSNPs) in cyclin-dependent kinase 7 (CDK7) gene associated with defect in the DNA repair mechanism that may contribute to canc...
Truc T M Nguyen,Shaheen E Lakhan,Barry A Finette Truc T M Nguyen
Background: Microsatellites are nucleotide sequences of tandem repeats occurring throughout the genome, which have been widely used in genetic linkage analysis, studies of loss of heterozygosity, determination of lineage ...
Paul G Germann,Alexander Schuhmacher,Juan Harrison et al. Paul G Germann et al.
The global healthcare industry is undergoing substantial changes and adaptations to the constant decline of approved new medical entities. This decrease in internal research productivity is resulting in a major decline of patent-protected s...
G Thomas Hayman,Pushkala Jayaraman,Victoria Petri et al. G Thomas Hayman et al.
The RGD Pathway Portal provides pathway annotations for rat, human and mouse genes and pathway diagrams and suites, all interconnected via the pathway ontology. Diagram pages present the diagram and description, with diagram objects linked ...