Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.

Autor: Nicoletti P; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Zafer S; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Matok L; Azrieli Faculty of Medicine, Bar Ilan University, Safed, Israel., Irron I; Department of Life Sciences, Faculty of Natural Sciences and The Center for Evolutionarily Genomics and Medicine, Ben Gurion University, Beer Sheva, Israel., Patrick M; Department of Life Sciences, Faculty of Natural Sciences and The Center for Evolutionarily Genomics and Medicine, Ben Gurion University, Beer Sheva, Israel., Haklai R; Department of Life Sciences, Faculty of Natural Sciences and The Center for Evolutionarily Genomics and Medicine, Ben Gurion University, Beer Sheva, Israel., Evangelista JE; Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Marino GB; Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Ma'ayan A; Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Sewda A; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY., Holmes G; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Britton SR; Department of Population Health Sciences, Weill Cornell Medical College of Cornell University New York, NY., Lee WJ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Wu M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Ru Y; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Arnaud E; Department of Neurosurgery, Necker Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Botto L; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah., Brody LC; Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD., Byren JC; Craniofacial Unit, Department of Plastic Surgery, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Caggana M; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY., Carmichael SL; Department of Pediatrics, Department of Obstetrics and Gynecology, Stanford University, Stanford, CA., Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Conway K; Department of Epidemiology, University of Iowa, Iowa City, IA., Crawford K; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom., Cuellar A; Department of Pediatrics, University of California, Davis, CA., Di Rocco F; Hôpital Femme Mère Enfant Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Lyon, France., Engel M; Department of Oral and Cranio-Maxillofacial Surgery, Heidelberg University Hospital, Heidelberg, Germany., Fearon J; The Craniofacial Center, Medical City Children's Hospital Dallas, Dallas, TX., Feldkamp ML; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah., Finnell R; Center for Precision Environmental Health, Department of Molecular and Cell Biology, Baylor College of Medicine, Houston, Texas., Fisher S; Birth Defects Registry, New York State Department of Health, Albany, NY., Freudlsperger C; Department of Oral and Cranio-Maxillofacial Surgery, Heidelberg University Hospital, Heidelberg, Germany., Garcia-Fructuoso G; Hospital Sant Joan de Deu, Hospital Sant Joan de Deu, Barcelona, Spain., Hagge R; Department of Epidemiology, University of Iowa, Iowa City, IA., Heuzé Y; Université de Bordeaux, CNRS, Ministère de la Culture, PACEA, Pessac, France., Harshbarger RJ; Department of Surgery, Division of Pediatric Plastic Surgery, UT Austin, Austin, TX., Hobbs C; Rady Children's Institute for Genomic Medicine, San Diego, CA., Howley M; Birth Defects Registry, New York State Department of Health, Albany, NY., Jenkins MM; Division of Birth Defects and Infant Disorders, Centers for Disease Control and Prevention, Atlanta, GA., Johnson D; Craniofacial Unit, Department of Plastic Surgery, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Justice CM; Computational and Statistical Genomics Branch, National Human Genome Research Institute, Baltimore, MD., Kane A; Department of Plastic Surgery, UT Southwestern Medical Center, Dallas, TX., Kay D; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY., Gosain AK; Department of Surgery, Division of Pediatric Plastic Surgery, Children's Hospital of Chicago, Northwestern University, Chicago, IL., Langlois P; Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Austin Campus, Austin, TX., Legal-Mallet L; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Université de Paris Cité, Imagine Institute, INSERM U1163, Paris, France., Lin AE; Medical Genetics, Mass General Hospital for Children, Harvard Medical School, Boston, MA., Mills JL; Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD., Morton JEV; Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, United Kingdom., Noons P; Birmingham Craniofacial Unit, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, United Kingdom., Olshan A; Department of Epidemiology, University of North Carolina, Chapel Hill, NC., Persing J; Division of Plastic and Reconstructive Surgery, Yale School of Medicine, New Haven, CT., Phipps JM; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom., Redett R; Department of Plastic and Reconstructive Surgery, Johns Hopkins University, Baltimore, MD., Reefhuis J; Division of Birth Defects and Infant Disorders, Centers for Disease Control and Prevention, Atlanta, GA., Rizk E; Department of Neurosurgery, Pennsylvania State University Medical Center, Hershey, PA., Samson TD; Division of Plastic and Reconstructive Surgery, Department of Surgery, Pennsylvania State University Medical Center, Hershey, PA., Shaw GM; Department of Pediatrics, Stanford University, Stanford, CA., Sicko R; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY., Smith N; Neuroscience Institute, Pennsylvania State University, College of Medicine, Hershey Medical Center, Hershey, PA., Staffenberg D; Hansjörg Wyss Department of Plastic Surgery, NYU Langone Medical Center, Hassenfeld Children's Hospital, New York, NY., Stoler J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Sweeney E; Department of Clinical Genetics, Liverpool Women's Hospital NHS Trust, Liverpool, United Kingdom., Taub PJ; Division of Plastic and Reconstructive Surgery, Icahn School of Medicine at Mount Sinai, New York, NY., Timberlake AT; Hansjörg Wyss Department of Plastic Surgery, NYU Langone Medical Center, Hassenfeld Children's Hospital, New York, NY., Topczewska J; Department of Surgery, Division of Pediatric Plastic Surgery, Children's Hospital of Chicago, Northwestern University, Chicago, IL., Wall SA; Craniofacial Unit, Department of Plastic Surgery, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Wilson AF; Computational and Statistical Genomics Branch, National Human Genome Research Institute, Baltimore, MD., Wilson LC; Clinical Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Boyadjiev SA; Department of Pediatrics, University of California, Davis, CA., Wilkie AOM; MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom., Richtsmeier JT; Department of Anthropology, Pennsylvania State University, University Park, PA., Jabs EW; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Romitti PA; Department of Epidemiology, University of Iowa, Iowa City, IA., Karasik D; Azrieli Faculty of Medicine, Bar Ilan University, Safed, Israel., Birnbaum RY; Department of Life Sciences, Faculty of Natural Sciences and The Center for Evolutionarily Genomics and Medicine, Ben Gurion University, Beer Sheva, Israel., Peter I; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.

Publikováno v: Genetics in medicine open [Genet Med Open] 2024; Vol. 2. Date of Electronic Publication: 2024 May 17.

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Calcium-Sensing Receptor Abrogates Secretagogue-Induced Increases in Intestinal Net Fluid Secretion by Enhancing Cyclic Nucleotide Destruction

Autor: Geibel, John, Sritharan, Kumudesh, Geibel, Rainer, Geibel, Peter, Persing, J. Scott, Seeger, Achim, Roepke, Torsten K., Deichstetter, Markus, Prinz, Christian, Cheng, Sam X., Martin, David, Hebert, Steven C.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 2006 Jun . 103(25), 9390-9397.

Externí odkaz: https://www.jstor.org/stable/30050920

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