What is a 'novel' mtDNA mutation--and does 'novelty' really matter? (Q50461556)

14 March 2018

title

What is a 'novel' mtDNA mutation--and does 'novelty' really matter? (English)

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14 March 2018

author

Antonio Salas

series ordinal

2

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14 March 2018

Claudio M. Bravi

series ordinal

3

object named as

Claudio M Bravi

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14 March 2018

Hans-Jürgen Bandelt

series ordinal

1

object named as

Hans-Jürgen Bandelt

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14 March 2018

publication date

5 October 2006

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14 March 2018

Journal of Human Genetics

published in

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14 March 2018

volume

51

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14 March 2018

issue

12

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14 March 2018

page(s)

1073-1082

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14 March 2018

https://scigraph.springernature.com/pub.10.1007/s10038-006-0066-5

exact match

0 references

cites work

The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-006-0066-5

Mitochondrial DNA somatic mutations (point mutations and large deletions) and mitochondrial DNA variants in human thyroid pathology: a study with emphasis on Hürthle cell tumors

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-006-0066-5

The fingerprint of phantom mutations in mitochondrial DNA data

21 January 2018

1 reference

12 December 2020

Accumulation of homoplasmic mtDNA point mutations in erythroblasts isolated from the bone marrow of patients with refractory anemia with ring sideroblasts (RARS)

1 reference

12 December 2020

Somatic mutations of the mitochondrial genome in human colorectal tumours

1 reference

12 December 2020

Mitochondrial mutations in early stage prostate cancer and bodily fluids

1 reference

12 December 2020

Mitochondrial DNA mutations in breast cancer tissue and in matched nipple aspirate fluid

1 reference

12 December 2020

mtDNA mutations increase tumorigenicity in prostate cancer

1 reference

12 December 2020

Detection of mitochondrial DNA alterations in primary tumors and corresponding serum of colorectal cancer patients

1 reference

12 December 2020

Natural selection shaped regional mtDNA variation in humans

1 reference

12 December 2020

A collection of 33 novel human mtDNA homoplasmic variants

1 reference

12 December 2020

Sequence analysis of the entire mitochondrial genome in Parkinson's disease

1 reference

12 December 2020

Problems in FBI mtDNA database

1 reference

12 December 2020

The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations

1 reference

12 December 2020

Sequence variation in mitochondrial complex I genes: mutation or polymorphism?

1 reference

12 December 2020

Association of mitochondrial DNA transversion mutations with familial medullary thyroid carcinoma/multiple endocrine neoplasia type 2 syndrome

1 reference

12 December 2020

Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphism.

1 reference

12 December 2020

Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis

1 reference

12 December 2020

Errors, phantoms and otherwise, in human mtDNA sequences

1 reference

12 December 2020

Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness

1 reference

12 December 2020

High frequency of somatic mitochondrial DNA mutations in human thyroid carcinomas and complex I respiratory defect in thyroid cancer cell lines.

1 reference

12 December 2020

Comprehensive scanning of the entire mitochondrial genome for mutations.

1 reference

12 December 2020

Mitochondrial DNA mutations in patients with orthostatic hypotension

1 reference

12 December 2020

More evidence for non-maternal inheritance of mitochondrial DNA?

1 reference

12 December 2020

Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences

1 reference

12 December 2020

Detection of mitochondrial DNA mutations in pancreatic cancer offers a "mass"-ive advantage over detection of nuclear DNA mutations.

1 reference

12 December 2020

Mitochondrial DNA mutations in primary leukemia cells after chemotherapy: clinical significance and therapeutic implications.

1 reference

12 December 2020

Mitochondrial DNA recombination-no need to panic

1 reference

12 December 2020

High incidence of somatic mitochondrial DNA mutations in human ovarian carcinomas

1 reference

12 December 2020

Saami and Berbers--an unexpected mitochondrial DNA link

1 reference

12 December 2020

Control region mutations and the 'common deletion' are frequent in the mitochondrial DNA of patients with esophageal squamous cell carcinoma

1 reference

12 December 2020

Do the four clades of the mtDNA haplogroup L2 evolve at different rates?

1 reference

12 December 2020

Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians

1 reference

12 December 2020

A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine

1 reference

12 December 2020

A reappraisal of complete mtDNA variation in East Asian families with hearing impairment

1 reference

12 December 2020

The Emerging Limbs and Twigs of the East Asian mtDNA Tree

1 reference

12 December 2020

mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences

1 reference

12 December 2020

Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia

1 reference

12 December 2020

Combination of mtDNA mutations in a patient with a mitochondrial multisystem syndrome.

1 reference

12 December 2020

Phylogeographic analysis of mitochondrial DNA haplogroup F2 in China reveals T12338C in the initiation codon of the ND5 gene not to be pathogenic.

1 reference

12 December 2020

Major genomic mitochondrial lineages delineate early human expansions

1 reference

12 December 2020

Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia

1 reference

12 December 2020

Low "penetrance" of phylogenetic knowledge in mitochondrial disease studies

1 reference

12 December 2020

A novel mtDNA ND6 gene mutation associated with LHON in a Caucasian family

1 reference

12 December 2020

Strand asymmetry in human mitochondrial DNA mutations

1 reference

12 December 2020

Comprehensive scanning of somatic mitochondrial DNA alterations in acute leukemia developing from myelodysplastic syndromes.

1 reference

12 December 2020

Harvesting the fruit of the human mtDNA tree

1 reference

12 December 2020

Phantom mutation hotspots in human mitochondrial DNA.

1 reference

12 December 2020

The role of selection in the evolution of human mitochondrial genomes

1 reference

12 December 2020

An evolutionary perspective on pathogenic mtDNA mutations: haplogroup associations of clinical disorders

1 reference

12 December 2020

Mitochondrial genes and schizophrenia

1 reference

12 December 2020

Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment

1 reference

12 December 2020

Sequence analysis of the complete mitochondrial genome in patients with mitochondrial encephaloneuromyopathies lacking the common pathogenic DNA mutations.

1 reference

12 December 2020

MtDNA profile of West Africa Guineans: towards a better understanding of the Senegambia region

1 reference

12 December 2020

Artificial recombination in forensic mtDNA population databases.

1 reference

12 December 2020

DNA commission of the international society for forensic genetics: guidelines for mitochondrial DNA typing.

1 reference

12 December 2020

A critical reassessment of the role of mitochondria in tumorigenesis

1 reference

12 December 2020

The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation

1 reference

12 December 2020

Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis

1 reference

12 December 2020

African Haplogroup L mtDNA sequences show violations of clock-like evolution

1 reference

12 December 2020

MITOMAP: a human mitochondrial genome database--2004 update

1 reference

12 December 2020

High Resolution Analysis and Phylogenetic Network Construction Using Complete mtDNA Sequences in Sardinian Genetic Isolates

1 reference

12 December 2020

The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool

1 reference

12 December 2020

Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations

1 reference

12 December 2020

Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups

1 reference

12 December 2020

Facile detection of mitochondrial DNA mutations in tumors and bodily fluids

1 reference

12 December 2020

Quality assessment of DNA sequence data: autopsy of a mis-sequenced mtDNA population sample.

1 reference

12 December 2020

Detection of mitochondrial DNA mutations in gestational trophoblastic disease.

1 reference

12 December 2020

mtDNA mutations in tumors of the central nervous system reflect the neutral evolution of mtDNA in populations.

1 reference

12 December 2020

A novel heteroplasmic tRNA(Leu(CUN)) mtDNA point mutation associated with chronic progressive external ophthalmoplegia.

1 reference

12 December 2020

Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss

1 reference

12 December 2020

No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency

1 reference

12 December 2020

Mitochondrial genome variation in eastern Asia and the peopling of Japan

1 reference

12 December 2020

Low penetrance of the 14484 LHON mutation when it arises in a non‐haplogroup J mtDNA background

1 reference

12 December 2020

A concordance of nucleotide substitutions in the first and second hypervariable segments of the human mtDNA control region

1 reference

12 December 2020

10.1007/S10038-006-0066-5

Identifiers

DOI

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14 March 2018

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14 March 2018