ArticleGenes2023
Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the
Maria Tofilo, Natalia Voronova, Leila Nigmatullina, Elena Kuznetsova, Valeria Timonina, Bogdan Efimenko, Oybek Turgunkhujaev, Svetlana Avdeichik, Muhammad Ansar, Konstantin Popadin and 2 more
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In one paragraphArticle in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
2 · The registryThe trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
3 · Its place in the literatureWho cites it
0 citing papers in PubMed, 0 citations in OpenAlex.
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4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
12 authors at 6 institutions in 3 countries.
Maria TofiloCenter for Molecular and Cellular Biology, Skolkovo Institute of Science and Technology, 121205 Moscow, Russia.
Natalia VoronovaCenter for Molecular and Cellular Biology, Skolkovo Institute of Science and Technology, 121205 Moscow, Russia.
Leila NigmatullinaCenter for Molecular and Cellular Biology, Skolkovo Institute of Science and Technology, 121205 Moscow, Russia.
Elena KuznetsovaFomin Clinics, 119192 Moscow, Russia.
Valeria TimoninaSchool of Life Sciences, Ecole Polytechnique Fédérale de Lausanne, 1015 Lausanne, Switzerland.
Bogdan EfimenkoCenter for Mitochondrial Functional Genomics, Immanuel Kant Baltic Federal University, 236041 Kaliningrad, Russia.ORCID 0000-0001-7635-3329 Svetlana AvdeichikMedical Genomics, 170100 Tver, Russia.
Muhammad AnsarDepartment of Ophthalmology, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, University of Lausanne, 1015 Lausanne, Switzerland.
Konstantin PopadinSchool of Life Sciences, Ecole Polytechnique Fédérale de Lausanne, 1015 Lausanne, Switzerland.
Anastasia KirillovaCenter for Molecular and Cellular Biology, Skolkovo Institute of Science and Technology, 121205 Moscow, Russia.
Ilya MazuninCenter for Molecular and Cellular Biology, Skolkovo Institute of Science and Technology, 121205 Moscow, Russia.ORCID 0000-0002-5448-9679 Skolkovo Institute of Science and Technology · RUDow University of Health Sciences · PKÉcole Polytechnique Fédérale de Lausanne · CHImmanuel Kant Baltic Federal University · RUSIB Swiss Institute of Bioinformatics · CHState Scientific Center of the Russian Federation - Federal Medical Biophysical Center named after A.I. Burnazyan · RU
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
Molybdenum cofactor deficiency type B (MOCODB; #252160) is an autosomal recessive metabolic disorder that has only been described in 37 affected patients. In this report, we describe the presence of an in-frame homozygous variant (c.471_477delTTTAAAAinsG) in the
Indexed as
DNA, MitochondrialLive BirthChildFemaleFertilization in VitroGenetic TestingHumansMutationPregnancyDNA, Mitochondrialconsanguinitymaternal ancestryMOCS2 genemtDNA relativesOhtahara syndromePGT-M
Identifiers
PMID36980992
PMCPMC10048300
OpenAlexW4327599826
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LicenceCC BY
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