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Mostrando 161 - 180 Resultados de 653 Para Buscar '"All in the Family"', tiempo de consulta: 0.30s Limitar resultados
  1. 161
    “…One family had the p.Pro214Leu mutation and one individual with ALL. The other family had a c.1252A>G transition producing a p.Arg418Gly substitution in the DNA binding domain, with alternative splicing and exon-skipping. …”
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    Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia
  2. 162
    “…However, recent evidence suggests that the WDR5 subunit may not be utilized in an identical manner within all SET1 family core complexes. Although the roles of WDR5 within the MLL1 core complex have been extensively studied, not much is known about the roles of WDR5 in other SET1 family core complexes. …”
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    Unique Role of the WD-40 Repeat Protein 5 (WDR5) Subunit within the Mixed Lineage Leukemia 3 (MLL3) Histone Methyltransferase Complex
  3. 163
    “…Sequencing revealed a mutation in the NKX2-1 gene in all eight affected family members. CONCLUSIONS: This is the first Norwegian family with benign hereditary chorea due to a mutation in the NKX2-1 gene, c.671 T > G (p.Leu224Arg). …”
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    Benign hereditary chorea, not only chorea: a family case presentation
  4. 164
    “…Genetically, a novel COL2A1 mutation (c.1349G>C, p.Gly450Ala) was identified in all the affected family members; however, it was not present in the one unaffected family member tested. …”
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    A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity
  5. 165
    “…These data suggest that all p53 family members - despite alterations in the specificity and binding affinity - are capable of activating pro-apoptotic pathways in a tissue specific manner.…”
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    Solution structure and binding specificity of the p63 DNA binding domain
  6. 166
    “…The sequences of V and J family mRNAs of the β chain V area were analyzed and databases were created for all 30 V family and J family genes. Using the Basic Local Alignment Search Tool, 15 genes were identified to be upregulated in the samples following treatment. …”
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    Analysis of the complementarity determining regions β-chain genomic rearrangement using high-throughput sequencing in periphery cytotoxic T lymphocytes of patients with chronic hepatitis B
  7. 167
    “…In the full models, in addition to all potential confounders, family and living region SES were included simultaneously. …”
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    The association of socioeconomic status of family and living region with self-rated health and life satisfaction in children and adolescents: The CASPIAN-IV study
  8. 168
    “…Targeted next generation sequencing identified a novel heterozygous splice-acceptor site mutation [c.1744-1G>A] in intron 14 of APC gene, which is co-segregated with the FAP phenotypes in the proband and amongst all the affected family members. This mutation is not present in unaffected family members and in normal healthy controls of same ethnic origin. …”
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    A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis
  9. 169
    “…We observed significantly different vertebrate community composition between sampling depths (0 m and 20/40 m deep) across all stations and significantly different communities at stations located on the continental shelf (<200 m bottom depth) versus in the deeper waters of the canyons of Monterey Bay (>200 m bottom depth). All but 1 family identified using eDNA metabarcoding is known to occur in MBNMS. …”
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    Biomonitoring of marine vertebrates in Monterey Bay using eDNA metabarcoding
  10. 170
    “…The mutation segregates in an X-linked pattern, as all the affected family members are hemizygotes, whereas healthy family members are either heterozygote or homozygote for the reference allele. cnga2 knockout mice are congenitally anosmic and have abnormal olfactory system physiology, additionally Karstensen et al. recently reported two anosmic brothers sharing a CNGA2 truncating variant. …”
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    Isolated Congenital Anosmia and CNGA2 Mutation
  11. 171
    “…The variant was present in all three affected family members, but was also present in the proband's grandfather who was reported to be unaffected. …”
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    Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract
  12. 172
    “…Targeted next generation sequencing identified a germline novel heterozygous single nucleotide deletion [c.3418delC; p.Pro1140Leufs*25] in exon18 of APC gene, which segregated with the FAP phenotypes in the proband and in all the affected family members whereas absent in unaffected family members as well as in normal healthy controls of same ethnic origin. …”
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    A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis
  13. 173
    “…The 5-year OS, LRFS, and DMFS rates of all patients with family history were 84.1%, 83.4%, and 83.8%, respectively. …”
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    The incidence and prognosis of nasopharyngeal carcinoma patients with family history
  14. 174
    “…However, fMRI showed that, compared to ASD, the SPD group showed significantly greater activation during social compared to gender judgments in the amygdala and 3 clusters: right posterior cerebellum, extending into fusiform and inferior temporal gyri; left posterior cerebellum; and left intraparietal sulcus extending through medial portions of the temporal gyri into the fusiform gyrus (all P < .05 family-wise error corrected). Control activations lay between the ASD and SPD groups. …”
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    Dissociation of Brain Activation in Autism and Schizotypal Personality Disorder During Social Judgments
  15. 175
    “…X-ray crystallography and targeted mutational analyses identified an arginine-rich loop that expands Cmr’s DNA interactions beyond the classical helix-turn-helix contacts common to all CRP/FNR family members and facilitates binding to imperfect DNA sequences. …”
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    Novel structural features drive DNA binding properties of Cmr, a CRP family protein in TB complex mycobacteria
  16. 176
    “…ETHICS AND DISSEMINATION: This review will be the first to examine all forms of family-focused practices for both substance use and problem gambling treatment for adults. …”
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    Family-focused practices in addictions: a scoping review protocol
  17. 177
    “…Glucose transporters of the slc2 family were expressed at very high level, and slc2a1b made up about 80% of all slc2 family members, irrespective of the developmental state or the infection status of the eel. …”
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    Transcript levels of members of the SLC2 and SLC5 families of glucose transport proteins in eel swimbladder tissue: the influence of silvering and the influence of a nematode infection
  18. 178
    “…Tofacitinib, inhibiting signalling via all Janus kinase family members, was effective in phase 2 and 3 trials in moderate-severe ulcerative colitis. …”
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    The Future of Janus Kinase Inhibitors in Inflammatory Bowel Disease
  19. 179
    “…We confirmed the missense mutation by Sanger sequencing in all the affected family members but did not detect this mutation in 100 ethnically matched healthy controls. …”
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    A Rare Missense Variant in Telomerase Reverse Transcriptase is Associated with Idiopathic Pulmonary Fibrosis in a Chinese Han Family
  20. 180
    “…PCR‐Sanger sequencing was performed in all of the family members for segregation analysis and verification of the candidate variants. …”
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    Identification of ANLN as a new likely pathogenic gene of branchio‐otic syndrome in a three‐generation Chinese family
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