Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome

Autor: Dinçer T, Yorgancıoğlu-Budak G, Ölmez A, Er İ, Dodurga Y, Özdemir ÖM, Toraman B, Yıldırım A, Sabir N, Akarsu NA, Semerci CN, Kalay E

Microcephalic primordial dwarfism (MPD) is a group of autosomal recessive inherited single-gene disorders with intrauterine and postnatal global growth failure. Seckel syndrome is the most common form of the MPD. Ten genes are known with Seckel syndr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3566::b011224b180a5134be50ae4c6cdea8fb

Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia

Autor: Semerci CN, Kalay E, Yıldırım C, Dinçer T, Olmez A, Toraman B, Koçyiğit A, Bulgu Y, Okur V, Satıroğlu-Tufan L, Akarsu NA

AIM: This study aimed to identify the underlying genetic defect responsible for anophthalmia/microphthalmia. METHODS: In total, two Turkish families with a total of nine affected individuals were included in the study. Affymetrix 250 K single nucleot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3566::18e7fff6a6d20db78509de96c1ef199a

Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly

Autor: Semerci, CN, Demirkan, F, Ozdemir, M, Biskin, E, Akin, B, Bagci, H, Akarsu, NA

Preaxial polydactyly is a common limb malformation in humans with variable clinical expression. Different types of triphalangeal thumb-preaxial polydactyly phenotypes were mapped to the chromosome 7q36 region. We studied a large Turkish family of 69

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5ca8bc3a1e09373e93159194a7a904cc
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Defining mitochondrial protein functions through deep multiomic profiling.

Autor: Rensvold JW; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO, USA.; Morgridge Institute for Research, Madison, WI, USA., Shishkova E; National Center for Quantitative Biology of Complex Systems, Madison, WI, USA.; Department of Biomolecular Chemistry, University of Wisconsin-Madison, Madison, WI, USA., Sverchkov Y; Department of Biostatistics and Medical Informatics, University of Wisconsin-Madison, Madison, WI, USA., Miller IJ; National Center for Quantitative Biology of Complex Systems, Madison, WI, USA.; Department of Biomolecular Chemistry, University of Wisconsin-Madison, Madison, WI, USA., Cetinkaya A; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Pyle A; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Manicki M; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO, USA.; Morgridge Institute for Research, Madison, WI, USA., Brademan DR; Morgridge Institute for Research, Madison, WI, USA.; Department of Biomolecular Chemistry, University of Wisconsin-Madison, Madison, WI, USA.; Department of Chemistry, University of Wisconsin-Madison, Madison, WI, USA., Alanay Y; Department of Pediatrics, Pediatric Genetics Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Department of Pediatrics, Pediatric Genetics Unit, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey., Raiman J; Department of Clinical Inherited Metabolic Disorders, Birmingham Women's and Children's Hospital NHS Trust, Birmingham, UK., Jochem A; Morgridge Institute for Research, Madison, WI, USA., Hutchins PD; Department of Chemistry, University of Wisconsin-Madison, Madison, WI, USA., Peters SR; Department of Chemistry, University of Wisconsin-Madison, Madison, WI, USA., Linke V; Department of Chemistry, University of Wisconsin-Madison, Madison, WI, USA., Overmyer KA; Morgridge Institute for Research, Madison, WI, USA.; National Center for Quantitative Biology of Complex Systems, Madison, WI, USA.; Department of Biomolecular Chemistry, University of Wisconsin-Madison, Madison, WI, USA., Salome AZ; Department of Chemistry, University of Wisconsin-Madison, Madison, WI, USA., Hebert AS; National Center for Quantitative Biology of Complex Systems, Madison, WI, USA.; Department of Biomolecular Chemistry, University of Wisconsin-Madison, Madison, WI, USA., Vincent CE; Department of Biomolecular Chemistry, University of Wisconsin-Madison, Madison, WI, USA., Kwiecien NW; National Center for Quantitative Biology of Complex Systems, Madison, WI, USA.; Department of Biomolecular Chemistry, University of Wisconsin-Madison, Madison, WI, USA., Rush MJP; Department of Chemistry, University of Wisconsin-Madison, Madison, WI, USA., Westphall MS; National Center for Quantitative Biology of Complex Systems, Madison, WI, USA.; Department of Biomolecular Chemistry, University of Wisconsin-Madison, Madison, WI, USA., Craven M; Department of Biostatistics and Medical Informatics, University of Wisconsin-Madison, Madison, WI, USA., Akarsu NA; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Taylor RW; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Coon JJ; Morgridge Institute for Research, Madison, WI, USA. jcoon@chem.wisc.edu.; National Center for Quantitative Biology of Complex Systems, Madison, WI, USA. jcoon@chem.wisc.edu.; Department of Biomolecular Chemistry, University of Wisconsin-Madison, Madison, WI, USA. jcoon@chem.wisc.edu.; Department of Chemistry, University of Wisconsin-Madison, Madison, WI, USA. jcoon@chem.wisc.edu., Pagliarini DJ; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO, USA. pagliarini@wustl.edu.; Morgridge Institute for Research, Madison, WI, USA. pagliarini@wustl.edu.; National Center for Quantitative Biology of Complex Systems, Madison, WI, USA. pagliarini@wustl.edu.; Department of Biochemistry and Molecular Biophysics, Washington University School of Medicine, St. Louis, MO, USA. pagliarini@wustl.edu.; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA. pagliarini@wustl.edu.; Department of Biochemistry, University of Wisconsin-Madison, Madison, WI, USA. pagliarini@wustl.edu.

Publikováno v: Nature [Nature] 2022 Jun; Vol. 606 (7913), pp. 382-388. Date of Electronic Publication: 2022 May 25.