Keywords: aniridia; genetics; PAX6 gene; haploinsufficiency; PAX6 mutations; phenotype; genetic investigations;
مقالات ISI (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: DNA damage; Mismatch repair; Haploinsufficiency;
Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I
Keywords: WS1; Waardenburg syndrome type 1; PAX3; Paired box gene 3; NCC; Neural crest cells; MITF; The Microphthalmia-Associated Transcription Factor; WS3; Waardenburg syndrome type 3; HRCT; The high-resolution computed tomography; MRI; Magnetic resonance imaging;
PAX5 haploinsufficiency induce cancer cell dormancy in Raji cells
Keywords: PAX5; Haploinsufficiency; Cancer cell dormancy;
4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features
Keywords: PITX2; 4q25; Tetralogy of fallot; Axenfeld-rieger syndrome; Haploinsufficiency;
Premature aging in behavior and immune functions in tyrosine hydroxylase haploinsufficient female mice. A longitudinal study
Keywords: Tyrosine hydroxylase; Haploinsufficiency; Behavior; Immunosenescence; Premature aging; Mean lifespan; Longitudinal study; Female mice;
Research paperA novel G to A transition at initiation codon and exon-intron boundary of PAX9 identified in association with familial isolated oligodontia
Keywords: Initiation codon; Haplotype; PAX9 minigene; Haploinsufficiency; Oligodontia;
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation
Keywords: MED13L; Haploinsufficiency; Intellectual disability;
IGF-1 receptor haploinsufficiency leads to age-dependent development of metabolic syndrome
Keywords: IGF-1; IGF-1R; Igf1r+/-; Haploinsufficiency; SGA; Insulin; Type 2 diabetes; Metabolic syndrome; Lipogenesis;
MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review
Keywords: MEF2C; Haploinsufficiency; Intellectual disability; Epilepsy; Hyperkinesis
Generation and analysis of an improved Foxg1-IRES-Cre driver mouse line
Keywords: Foxg1; Telencephalon; Cre recombinase; Knock-in mouse; Haploinsufficiency; MicroRNA;
Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome
Keywords: 3' UTR; Li-Fraumeni syndrome; haploinsufficiency; rs78378222;
Comparison of the effects of a truncating and a missense MYBPC3 mutation on contractile parameters of engineered heart tissue
Keywords: Cardiac myosin-binding protein-C; Engineered heart tissue; Haploinsufficiency; Hypertrophic cardiomyopathy; Missense mutation; Truncating mutation;
Novel P-TEN-induced putative kinase 1 (PINK1) variant in Indian Parkinson's disease patient
Keywords: Parkinson's disease; Mutation; Site-directed-mutagenesis; Haploinsufficiency; Truncated PINK1; ClinVar: rs30882053;
Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities
Keywords: miRNAs, microRNAs; Lingo2, leucine rich repeat and Ig domain containing 2; aCGH, array comparative genomic hybridization; DGV, Database of Genomic Variants; Hh, HedgehogCraniofacial; Developmental defect; Haploinsufficiency; Hedgehog; miR-873; miR-876
Haploinsufficiency of MYBPC3 exacerbates the development of hypertrophic cardiomyopathy in heterozygous mice
Keywords: cMyBP-C; Cardiac myosin binding protein-C (referring to the polypeptide); cTnI; Cardiac troponin I; E/A; Early/Atrial diastolic blood filling velocities; Eâ²/Aâ²; Early/Atrial diastolic tissue motion velocities; EF; Ejection fraction; HCM; Hypertrophic
A survey of disease connections for CD4+ T cell master genes and their directly linked genes
Keywords: Master genes; Disease genes; Transcription factors; Protein–protein interactions; Essential genes; Haploinsufficiency
Nucleolar stress in Diamond Blackfan anemia pathophysiology
Keywords: Ribosomopathy; Anemia; Nucleolar stress; Haploinsufficiency
Pediatric/Congenital/DevelopmentalCharacterization of transcription factor AP-2 beta mutations involved in familial isolated patent ductus arteriosus suggests haploinsufficiency
Keywords: Patent ductus arteriosus; TFAP2B; Haploinsufficiency; Mutation;
Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: A causative mutation?
Keywords: CCM; cerebral cavernous malformation; KRIT1; K-Rev interaction trapped 1; PDCD10; Programmed Cell Death 10; NMD; Nonsense-mediated decay; MRI; Magnetic Resonance Imaging; MLPA; Multiplex ligation-dependent probe amplification; PCR; Polymerase chain reacti
Differential and redundant functions of gooseberry and gooseberry neuro in the central nervous system and segmentation of the Drosophila embryo
Keywords: Evolution; Haploinsufficiency; Gene duplication; Gooseberry; Gooseberry neuro; Segmentation; SNa motoneurons;
Moderate hearing loss associated with a novel KCNQ4 non-truncating mutation located near the N-terminus of the pore helix
Keywords: DFNA2, nonsyndromic autosomal dominant sensorineural deafness type 2; KCNQ4, potassium voltage-gated channel; KQT-like subfamily, member 4; ABR, auditory brainstem responseKCNQ4; Nonsyndromic hearing loss; Dominant negative effect; Haploinsufficiency; Mol
Studies on Pathogenesis of Waardenburg Syndrome Type II and Tietz Syndrome Resulting from MITF Gene Mutations
Keywords: Waardenburg syndrome; Teitz syndrome; MITF; Mutation; haploinsufficiency
The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins
Keywords: Dilated cardiomyopathy; LMNA; Laminopathies; Premature termination codon mutation; Nonsense mediated mRNA decay; Haploinsufficiency
Investigating the Ustilago maydis/Zea mays pathosystem: Transcriptional responses and novel functional aspects of a fungal calcineurin regulatory B subunit
Keywords: Ustilago maydis; Suppressive subtractive hybridization cDNA library; Calcineurin regulatory B subunit; Haploinsufficiency
A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome
Keywords: PAX2; RCS; Haploinsufficiency; Coloboma; Renal hypoplasia;
Impairment in differentiation and cell cycle of thymocytes by loss of a Bcl11b tumor suppressor allele that contributes to leukemogenesis
Keywords: T-ALL; BCL11B; Type B abnormalities; Haploinsufficiency; Cell cycle of thymocytes;
Haploinsufficiency and telomere length homeostasis
Keywords: Telomerase; Telomeres; Haploinsufficiency; Disease;
Losing protein in the brain: The case of progranulin
Keywords: Progranulin; Haploinsufficiency; Neurodegeneration; Frontotemporal lobar degeneration; Clinical phenotype; Plasma progranulin cutoff
Determining the mode of action of bioactive compounds
Keywords: Affinity chromatography; Drug; Target; Haploinsufficiency;
Dramatically different levels of cacna1a gene expression between pre-weaning wild type and leaner mice
Keywords: CACNA1A; gene encoding P/Q type α1A subunit voltage-dependent calcium channel; CaV2.1; α1A subunit of P/Q voltage-dependent calcium channel; EA2; Episodic Ataxia type 2; tg; tottering; tg-la; leaner; rkr; rocker; rolling-nagoya; tg-rol; PTC; premature t
The role of the SHOX gene in the pathophysiology of Turner syndrome
Keywords: Haploinsufficiency; Short stature; SHOX gene; Turner syndrome; Hearing lossHaploinsuficiencia; Baja estatura; Gen SHOX; Síndrome de Turner; Pérdida de audición
The role of the SHOX gene in the pathophysiology of Turner syndrome
Keywords: Haploinsufficiency; Short stature; SHOX gene; Turner syndrome; Hearing lossHaploinsuficiencia; Baja estatura; Gen SHOX; Síndrome de Turner; Pérdida de audición
High sensitivity of C. elegans vulval precursor cells to the dose of posterior Wnts
Keywords: Cell competence level; C. elegans vulva; Wnt gradient; Hox; Haploinsufficiency
Defective cranial skeletal development, larval lethality and haploinsufficiency in Myod mutant zebrafish
Keywords: Muscle; Zebrafish; Myosin; Slow; Fibre; Fast; Myod; Myogenin; Myf5; miR-206; Skeleton; Bone; Cartilage; Head; Fin; Haploinsufficiency;
Genetic deletions in AML and MDS
Keywords: Myelodysplastic syndromes (MDS); 5q deletion; 5q-; Haploinsufficiency; RPS14; p53; miR-145; Diamond Blackfan anemia
Radiosensitivity to high energy iron ions is influenced by heterozygosity for Atm, Rad9 and Brca1
Keywords: Atm; Rad9; Brca1; 56Fe ions; Heterozygosity; Haploinsufficiency;
A novel strategy for therapeutic intervention for the genetic disease: Preventing proteolytic cleavage using small chemical compound
Keywords: Genetic disease; Haploinsufficiency; Lissencephaly; Calpain inhibitor; Protein augmentation
Rad51C is essential for embryonic development and haploinsufficiency causes increased DNA damage sensitivity and genomic instability
Keywords: Rad51C; Embryonic lethality; Haploinsufficiency; Genome instability
Interactions of peptide amidation and copper: Novel biomarkers and mechanisms of neural dysfunction
Keywords: Nutrition; Thermogenesis; Anxiety; Seizure; Neuropeptides; Haploinsufficiency; PAM;
Neurog3 gene dosage regulates allocation of endocrine and exocrine cell fates in the developing mouse pancreas
Keywords: Diabetes; Islet; Neurog3; Ngn3; Lateral inhibition; Notch; Endocrine progenitor; Dosage; Haploinsufficiency; Pancreas;
A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hemochromatosis patient
Keywords: Hemochromatosis; HFE; c.del478; Nonsense-mediated decay; Haploinsufficiency;
Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice
Keywords: Rai1; Smith–Magenis syndrome; Mendelian transmission; Allele distortion; Haploinsufficiency
Posttranscriptional down-regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency
Keywords: Diamond-Blackfan anemia (DBA); Ribosomal protein S19; Haploinsufficiency; Ribosome biogenesis; Antibody
DNA damage responses in Drosophila nbs mutants with reduced or altered NBS function
Keywords: Double-strand break repair; NBS; Checkpoints; Haploinsufficiency
Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family
Keywords: Frontotemporal dementia; Ubiquitin; Progranulin; Haploinsufficiency; Frameshift mutation;
Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea
Keywords: TTF-1; NKX2.1; Benign hereditary chorea; BHC; Haploinsufficiency
Targeted deletion of Tssk1 and 2 causes male infertility due to haploinsufficiency
Keywords: Haploinsufficiency; Infertility; Gene targeting deletion; TSSK1; TSSK2; TSKS; Spermatozoa; Protein interaction; Protein phosphorylation
Haploinsufficiency of poly(ADP-ribose) polymerase-1-mediated poly(ADP-ribosyl)ation for centrosome duplication
Keywords: Centrosome; Poly(ADP-ribosyl)ation; PARP-1; Haploinsufficiency;
Haploinsufficiency of Bcl11b for suppression of lymphomagenesis and thymocyte development
Keywords: Lymphoma; γ-ray; Haploinsufficiency; P53; Bcl11b