Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics
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Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative DiseasesThe Solution Structure of DNA-free Pax-8 Paired Box Domain Accounts for Redox Regulation of Transcriptional Activity in the Pax Protein FamilyLegal but lethal: functional protein aggregation at the verge of toxicityThe paired domain-containing factor Pax8 and the homeodomain-containing factor TTF-1 directly interact and synergistically activate transcriptionA single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophyAnalysis of small human proteins reveals the translation of upstream open reading frames of mRNAsChromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis.Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever.A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counselingSpinal muscular atrophy: recent advances and future prospects.Segmental duplications in euchromatic regions of human chromosome 5: a source of evolutionary instability and transcriptional innovation.Large-scale identification and characterization of alternative splicing variants of human gene transcripts using 56,419 completely sequenced and manually annotated full-length cDNAsHigh-resolution genetic and physical map of the Lgn1 interval in C57BL/6J implicates Naip2 or Naip5 in Legionella pneumophila pathogenesis.Spinal muscular atrophy--type ISpinal muscular atrophy: molecular genetics and diagnostics.Pax8 has a key role in thyroid cell differentiation.The detection and characterization of pleiotropy: discovery, progress, and promise.Adipogenic Differentiation of Thyroid Cancer Cells Through the Pax8-PPARγ Fusion Protein Is Regulated by Thyroid Transcription Factor 1 (TTF-1).D5S351 and D5S1414 located at the spinal muscular atrophy critical region represent novel informative markers in the Iranian population.DNA Damage Response and DNA Repair in Skeletal Myocytes From a Mouse Model of Spinal Muscular Atrophy.Spinal muscular atrophy: untangling the knot?CA88, a nuclear repetitive DNA sequence identified in Schistosoma mansoni, aids in the genotyping of nine Schistosoma species of medical and veterinary importance.Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells.Cross-talk between the paired domain and the homeodomain of Pax3: DNA binding by each domain causes a structural change in the other domain, supporting interdependence for DNA Binding.
P2860
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P2860
Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics
description
1998 nî lūn-bûn
@nan
1998 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Identification of a candidate ...... trophy by comparative genomics
@ast
Identification of a candidate ...... trophy by comparative genomics
@en
Identification of a candidate ...... trophy by comparative genomics
@en-gb
Identification of a candidate ...... trophy by comparative genomics
@nl
type
label
Identification of a candidate ...... trophy by comparative genomics
@ast
Identification of a candidate ...... trophy by comparative genomics
@en
Identification of a candidate ...... trophy by comparative genomics
@en-gb
Identification of a candidate ...... trophy by comparative genomics
@nl
prefLabel
Identification of a candidate ...... trophy by comparative genomics
@ast
Identification of a candidate ...... trophy by comparative genomics
@en
Identification of a candidate ...... trophy by comparative genomics
@en-gb
Identification of a candidate ...... trophy by comparative genomics
@nl
P2093
P2860
P921
P356
P1433
P1476
Identification of a candidate ...... trophy by comparative genomics
@en
P2093
J M Scharf
L M Kunkel
M G Endrizzi
T G Thompson
W F Dietrich
P2860
P2888
P356
10.1038/1753
P407
P577
1998-09-01T00:00:00Z
P6179
1052917072