Výsledky vyhledávání - "Paula Ann Kivistik"

Exome analysis in an Estonian multiplex family with neural tube defects—a case report

Autor: Mart Kals, Tiit Nikopensius, Andres Metspalu, Paula Ann Kivistik, Liina Pappa, Ann Paal

Publikováno v: Child's Nervous System. 33:1575-1581

Neural tube defects (NTDs) are a group of common and severe congenital birth defects that occur during early embryonic development due to incomplete closure of the neural tube. The genetic architecture of human NTDs, including spina bifida and hydroc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5212eb84ac9e2e731b264d073be354c6
https://doi.org/10.1007/s00381-017-3491-1

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A Missense Mutation in DUSP6 is Associated with Class III Malocclusion

Autor: Tarmo Annilo, Mare Saag, Mart Kals, Tiit Nikopensius, Andres Metspalu, Triin Jagomägi, Lili Milani, Paula Ann Kivistik

Publikováno v: Journal of Dental Research. 92:893-898

Class III malocclusion is a common dentofacial phenotype with a variable prevalence according to ethnic background. The etiology of Class III malocclusion has been attributed mainly to interactions between susceptibility genes and environmental facto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3736b8e6416df7752e9924483f70c5c0
https://doi.org/10.1177/0022034513502790

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Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases

Autor: Margit Nõukas, Olga Žilina, Mart Kals, Ants Kurg, Andres Salumets, Olga Tšuiko, Reedik Mägi, Juha S. Tapanainen, Kadri Haller-Kikkatalo, Paula Ann Kivistik, Kati Hensen

Publikováno v: Human Reproduction
Human Reproduction (Oxford, England)

Study question Can spontaneous premature ovarian failure (POF) patients derived from population-based biobanks reveal the association between copy number variations (CNVs) and POF? Summary answer CNVs can hamper the functional capacity of ovaries by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a126cc99577131cb4d0129f41190c8b
http://hdl.handle.net/10138/169138

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Microbial population dynamics in response to Pectobacterium atrosepticum infection in potato tubers

Autor: David Schryer, Eve Vedler, Viia Kõiv, Andres Mäe, Tanel Tenson, Kristel Toppi, Paula Ann Kivistik, Maido Remm, Märt Roosaare

Publikováno v: Scientific Reports

Endophytes are microbes and fungi that live inside plant tissues without damaging the host. Herein we examine the dynamic changes in the endophytic bacterial community in potato (Solanum tuberosum) tuber in response to pathogenic infection by Pectoba

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e52e0d9907cb155f7e90a132493a9875
https://doi.org/10.1038/srep11606

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Identification of ColR binding consensus and prediction of regulon of ColRS two-component system

Autor: Paula Ann Kivistik, Maia Kivisaar, Rait Kivi, Rita Hõrak

Publikováno v: BMC Molecular Biology
BMC Molecular Biology, Vol 10, Iss 1, p 46 (2009)

BackgroundConserved two-component system ColRS ofPseudomonasgenus has been implicated in several unrelated phenotypes. For instance, deficiency ofP. putidaColRS system results in lowered phenol tolerance, hindrance of transposition of Tn4652and lysis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57512672342cfd4c7b95eb490bbc3bb7
https://doi.org/10.1186/1471-2199-10-46

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The ColRS two-component system regulates membrane functions and protects Pseudomonas putida against phenol

Autor: Paula Ann Kivistik, Rita Hõrak, Külliki Püvi, Maia Kivisaar, Marta Putrinš, Heili Ilves

Publikováno v: Journal of bacteriology. 188(23)

As reported, the two-component system ColRS is involved in two completely different processes. It facilitates the root colonization ability of Pseudomonas fluorescens and is necessary for the Tn 4652 transposition-dependent accumulation of phenol-uti

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https://pubmed.ncbi.nlm.nih.gov/17012397

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Sequence variation in nuclear ribosomal small subunit, internal transcribed spacer and large subunit regions of Rhizophagus irregularis and Gigaspora margarita is high and isolate-dependent

Autor: Mari Moora, Maarja Öpik, Ülle Saks, John Davison, Paula-Ann Kivistik, Christophe Roux, Martti Vasar, Andres Metspalu, Martin Zobel, Teele Jairus, Lili Milani, Odile Thiéry

Publikováno v: Molecular Ecology

Arbuscular mycorrhizal (AM) fungi are known to exhibit high intra-organism genetic variation. However, information about intra- vs. interspecific variation among the genes commonly used in diversity surveys is limited. Here, the nuclear small subunit

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Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

Autor: Andres Metspalu, Mart Kals, Eve Õiglane-Shlik, Riina Shor, Mari-Anne Vals, Paula Ann Kivistik, Katrin Õunap, Aleksandr Peet, Margit Nõukas

Publikováno v: European Journal of Human Genetics

Coffin-Siris Syndrome (CSS, MIM 135900) is a rare genetic disorder, and mutations in ARID1B were recently shown to cause CSS. In this study, we report a novel ARID1B mutation identified by whole-exome sequencing in a patient with clinical features of

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