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在“Elsevier电子期刊”中，命中：364条，耗时：0.0919542 秒

在所有数据库中总计命中：10,448条

1.Molecular dynamics simulation of the human estrogen receptor alpha: contribution to the pharmacophore of the agonists

作者：Dessislava Jereva^a ; ^{dessislava.jereva@biomed.bas.bg} ; Filip Fratev^a ; ^b ; ^{fratev@biomed.bas.bg} ; Ivanka Tsakovska^a ; ^{itsakovska@biomed.bas.bg} ; Petko Alov^a ; ^{petko.alov@biophys.bas.bg} ; Tania Pencheva^a ; ^{tania.pencheva@biomed.bas.bg} ; Ilza Pajeva^a ; ^{pajeva@biomed.bas.bg}

关键词：Human estrogen receptor alpha ; Agonist ; Pharmacophore ; Molecular dynamics simulation

刊名：Mathematics and Computers in Simulation

出版年：2017

2.Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease

作者：Ekram M. Fateen^a ; ^{efateen@yahoo.com} (Professor) ; Hanan Abd El Mawgoud^b ; ^{hananmoawad@gmail.com} (Assistant Professor) ; Noura R. Eissa^c ; ^{nr.eissa@yahoo.com} (Assistant Reseacher) ; Mona M. Ibrahim^a ; ^{monamahmoud60@yahoo.com} (Assistant Professor) ; Mona S. Aglan^d ; ^{drmona_aglan@yahoo.com} (Professor) ; Mona L. Essawi^c ; ^{mlessawi@yahoo.com} (Professor)

关键词：MPS IVA ; Mucopolysaccharidosis type 4 &ndashA ; GALNS ; N-acetylgalactosamine-6-sulfatase ; GAGs ; Glycosaminoglycans ; NRC ; National Research Centre ; MPSs ; Mucopolysaccharidoses ; GLB1 ; β-Galactosidase ; KS ; Keratan Sulfate ; C6S ; Chondroitin-6-Sulfate ; kDa ; Kilo Dalton ; HGMD ; Human Gene Mutation Database ; ERT ; Enzyme Replacement Therapy ; LMSDC ; Limb Malformation and Skeletal Deformities Clinic ; RFLP ; Restriction Fragment Length Polymorphism ; PCR ; Polymerase Chain Reaction ; mRNA ; messenger Ribonucleic

刊名：Gene

出版年：2017

3.Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)

作者：Anusha Uttarilli^a ; ^b ; Divya Pasumarthi^a ; Prajnya Ranganath^a ; ^c ; Ashwin B Dalal^a ; ^{ashwindalal@gmail.com}

关键词：ARSB ; Arylsulfatase B ; HGMD ; human gene mutation database ; MPS ; mucopolysaccharidoses ; LSD ; lysosomal storage disorders ; DS ; dermatan sulfate

刊名：Gene

出版年：2017

4.Intensification: A Resource for Amplifying Population-Genetic Signals with Protein Repeats

作者：Jieming Chen¹ ; ² ; ³ ; Bo Wang⁵ ; Lynne Regan¹ ; ² ; ³ ; ⁵ ; ^&dagger ; ; Mark Gerstein¹ ; ² ; ³ ; ⁴ ; ^&dagger ; ; ^{mark@gersteinlab.org}

关键词：RPD ; repeat protein domain ; MSA ; multiple sequence alignment ; PPI ; protein&ndash ; protein interaction ; TPR ; tetratricopeptide repeat ; ANK ; Ankyrin repeat ; ExAC ; Exome Aggregation Consortium ; SNV ; single nucleotide variant ; DAF ; derived allele frequency ; PDB ; Protein Data Bank ; HGMD ; Human Gene Mutation Database

刊名：Journal of Molecular Biology

出版年：2017

5.Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome

作者：Lidia Carreñ ; o-Gago^a ; ^b ; Josep Gamez^d ; Yolanda Cá ; mara^a ; ^b ; Elena Alvarez de la Campa^c ; Juan Sebastian Aller-Alvarez^d ; Dulce Moncho^e ; Maria Salvado^d ; Alicia Galan^f ; Xavier de la Cruz^c ; ^g ; Tomà ; s Pinó ; s^a ; ^b ; ¹ ; Elena Garcí ; a-Arumí ; ^a ; ^b ; ^h ; ¹ ; ^{elena.garcia@vhir.org}

关键词：Novel mutation ; mtDNA ; MT-ND1 ; LHON syndrome ; Cybrids

刊名：Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

出版年：2017

6.A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene

作者：Keiichiro Tsunoda^a ; Toru Yamashita^a ; Emi Motokura^a ; Yoshiaki Takahashi^a ; Kota Sato^a ; Mami Takemoto^a ; Nozomi Hishikawa^a ; Yasuyuki Ohta^a ; Atsuko Nishikawa^b ; Ichizo Nishino^b ; Koji Abe^a ; ^{me18046@s.okayama-u.ac.jp}

关键词：ACTA1 ; alfa-actin ; ALT ; alanine aminotransferase ; AS-PCR ; allele specific-polymerase chain reaction ; AST ; aspartate aminotransferase ; CFL2 ; cofilin2 ; CO2 ; carbon dioxide ; CT ; computed tomography ; DNA ; deoxyribonucleic acid ; ESP6500 ; Exome Sequencing Project 6500 ; H&E ; hematoxylin and eosin ; HCO3&minus ; ; bicarbonate ion ; HGVD ; Human Genetic Variation Database ; MGUS ; monoclonal gammopathy of undetermined significance ; NADH-TR ; nicotinamide adenine dinucleotide tetrazolium reductase ; NEB ; neb

刊名：Journal of the Neurological Sciences

出版年：2017

7.Neurology Individualized Medicine: When to Use Next-Generation Sequencing Panels

作者：Christopher J. Klein ; MD^a ; ^{klein.christopher@mayo.edu} ; Tatiana M. Foroud ; PhD^b

关键词：ACMG ; American College of Medical Genetics and Genomics ; bp ; base pair ; CNV ; copy number variation ; HGMD ; Human Gene Mutation Database ; NGS ; next-generation sequencing ; OMIM ; Online Mendelian Inheritance in Man ; WES ; whole-exome sequencing ; WGS ; whole-genome sequencing

刊名：Mayo Clinic Proceedings

出版年：2017

8.Transcriptome profiling of NIH3T3 cell lines expressing opsin and the P23H opsin mutant identifies candidate drugs for the treatment of retinitis pigmentosa

作者：Yuanyuan Chen^a ; Matthew J. Brooks^b ; Linn Gieser^b ; Anand Swaroop^b ; Krzysztof Palczewski^a ; ^{kxp65@case.edu}

关键词：ad ; autosomal dominant ; BP ; biological process ; CHOP ; C/EBP homologous protein ; CRE ; the cAMP-responsive element ; CREB ; the cAMP-responsive element-binding protein ; CREM ; the cAMP-responsive element modulator ; ATF-1 ; activating transcription factor-1 ; DAVID ; the database for annotation visualization and integrated discovery ; DE ; differential expression ; DMEM ; Dulbecco&rsquo ; s modified Eagle&rsquo ; s medium ; ER ; endoplasmic reticulum ; ERAD ; ER-associated protein degradation ; FDA ; Food and Drug Adm

刊名：Pharmacological Research

出版年：2017

9.Red blood cell PK deficiency: An update of PK-LR gene mutation database

作者：Giulia Canu ; ^{giuliacanu@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Maria De Bonis ; Angelo Minucci ; ^{angelo.minucci@virgilio.it" class="auth_mail" title="E-mail the corresponding author} ; ^{angelo.minucci@rm.unicatt.it" class="auth_mail" title="E-mail the corresponding author} ; Ettore Capoluongo

关键词：PK-LR ; pyruvate kinase liver and red blood cells ; PK-M ; pyruvate kinase muscle ; CNSHA ; chronic nonspherocytic hemolytic anemia ; RBCs ; red blood cells ; LOVD ; Leiden Open Variants Database ; HGMD ; Human Gene Mutation Database

刊名：Blood Cells, Molecules and Diseases

出版年：2016

10.A 3-methylcrotonyl-CoA carboxylase deficient human skin fibroblast transcriptome reveals underlying mitochondrial dysfunction and oxidative stress

作者：L. Zandberg ; H.C. van Dyk ; F.H. van der Westhuizen ; A.A. van Dijk ; ^{albie.vandijk@nwu.ac.za" class="auth_mail" title="E-mail the corresponding author}

关键词：3-methylcrotonyl-CoA carboxylase deficiency ; Mitochondrial dysfunction ; Oxidative stress ; Immortalized human skin fibroblast transcriptome ; Affymetrix® ; HuExST1.0 array

刊名：International Journal of Biochemistry and Cell Biology

出版年：2016

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