Once a reservoir, always a reservoir? Seasonality affects the pathogen maintenance potential of amphibian hosts.

Autor: Wilber MQ; Department of Forestry, Wildlife, and Fisheries, University of Tennessee, Institute of Agriculture, Knoxville, Tennessee, USA.; Ecology, Evolution and Marine Biology, University of California, Santa Barbara, Santa Barbara, California, USA., Ohmer MEB; Living Earth Collaborative, Washington University in St. Louis, St. Louis, Missouri, USA.; Department of Biological Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Department of Biology, University of Mississippi, Oxford, Mississippi, USA., Altman KA; Department of Biological Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Department of Biology, St. Bonaventure University, St. Bonaventure, New York, USA., Brannelly LA; Department of Biological Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Melbourne Veterinary School, Faculty of Veterinary and Agricultural Sciences, The University of Melbourne, Werribee, Victoria, Australia., LaBumbard BC; Department of Biology, University of Massachusetts Boston, Boston, Massachusetts, USA., Le Sage EH; Department of Pathology Microbiology, and Immunology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA., McDonnell NB; Department of Biology, University of Massachusetts Boston, Boston, Massachusetts, USA., Muñiz Torres AY; Department of Biology, University of Massachusetts Boston, Boston, Massachusetts, USA., Nordheim CL; Ecology, Evolution and Marine Biology, University of California, Santa Barbara, Santa Barbara, California, USA.; Department of Biological Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Pfab F; Ecology, Evolution and Marine Biology, University of California, Santa Barbara, Santa Barbara, California, USA., Richards-Zawacki CL; Department of Biological Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Rollins-Smith LA; Department of Pathology Microbiology, and Immunology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA., Saenz V; Department of Biological Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Voyles J; Department of Biology, University of Nevada Reno, Reno, Nevada, USA., Wetzel DP; Department of Biological Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Woodhams DC; Department of Biology, University of Massachusetts Boston, Boston, Massachusetts, USA., Briggs CJ; Ecology, Evolution and Marine Biology, University of California, Santa Barbara, Santa Barbara, California, USA.

Publikováno v: Ecology [Ecology] 2022 Sep; Vol. 103 (9), pp. e3759. Date of Electronic Publication: 2022 Jul 15.

Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome.

Autor: Shalhub S; Division of Vascular Surgery, Department of Surgery, University of Washington School of Medicine, Seattle, WA., Neptune E; Pulmonary and Critical Care Medicine, The Johns Hopkins Hospital, Baltimore, Maryland., Sanchez DE; Division of Vascular Surgery, Department of Surgery, University of Washington School of Medicine, Seattle, WA., Dua A; Department of Surgery, Stanford University, Stanford, California., Arellano N; Department of surgery, Centro Clinico Quirurgico Hospital Del Dia Norte, Guayaquil, Ecuador., McDonnell NB; Colorado Springs VA Medical Clinic, Colorado Springs, Colorado., Milewicz DM; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston, Houston, Texas.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2019 May; Vol. 179 (5), pp. 797-802. Date of Electronic Publication: 2019 Feb 22.

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.

Autor: Blackburn PR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA., Xu Z; Laboratory of Clinical Investigation, National Institute on Aging, NIH, Baltimore, MD 21224, USA., Tumelty KE; Department of Biochemistry, Boston University School of Medicine, Boston, MA 02118, USA., Zhao RW; Department of Biochemistry, Boston University School of Medicine, Boston, MA 02118, USA., Monis WJ; Department of Biochemistry, Boston University School of Medicine, Boston, MA 02118, USA., Harris KG; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USA., Gass JM; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL 32224, USA., Cousin MA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA., Boczek NJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA., Mitkov MV; Department of Dermatology, Mayo Clinic, Jacksonville, FL 32224, USA., Cappel MA; Department of Dermatology, Mayo Clinic, Jacksonville, FL 32224, USA., Francomano CA; Laboratory of Clinical Investigation, National Institute on Aging, NIH, Baltimore, MD 21224, USA; Greater Baltimore Medical Center, Towson, MD 21204, USA., Parisi JE; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA., Klee EW; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Faqeih E; Department of Pediatric Specialties, Children's Hospital, King Fahad Medical City, Riyadh 12231, Saudi Arabia., Alkuraya FS; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh 12371, Saudi Arabia; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia; King Abdullah University of Science and Technology (KAUST), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia., Layne MD; Department of Biochemistry, Boston University School of Medicine, Boston, MA 02118, USA., McDonnell NB; Laboratory of Clinical Investigation, National Institute on Aging, NIH, Baltimore, MD 21224, USA; Veteran's Administration, Eastern Colorado Health System, Denver, CO 80220, USA. Electronic address: nazli.mcdonnell@va.gov., Atwal PS; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USA; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL 32224, USA. Electronic address: paldeep.atwal@googlemail.com.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2018 Apr 05; Vol. 102 (4), pp. 696-705. Date of Electronic Publication: 2018 Mar 29.

Analysis of the CYP21A2 gene pathogenic variants in CAH patients from Surgut using next-generation sequencing (NGS).

Autor: Osinovskaya, Natalia¹ (AUTHOR) natosinovskaya@mail.ru, Vashukova, Elena¹ (AUTHOR), Tarasenko, Olga¹ (AUTHOR), Danilova, Maria¹ (AUTHOR), Glavnova, Olga¹ (AUTHOR), Sultanov, Iskender¹ (AUTHOR), Donnikov, Maxim² (AUTHOR), Nasykhova, Yulia¹ (AUTHOR), Glotov, Andrey¹ (AUTHOR)

Publikováno v: Egyptian Journal of Medical Human Genetics. 3/12/2024, Vol. 25 Issue 1, p1-8. 8p.

Mitral valve transcriptome analysis in thirty-four age-matched Cavalier King Charles Spaniels with or without congestive heart failure caused by myxomatous mitral valve disease.

Autor: Reimann, Maria J.¹ (AUTHOR), Cremer, Signe¹ (AUTHOR), Christiansen, Liselotte¹ (AUTHOR), Ibragimov, Emil² (AUTHOR), Gao, Fei^3,4 (AUTHOR), Cirera, Susanna² (AUTHOR), Fredholm, Merete² (AUTHOR), Olsen, Lisbeth H.¹ (AUTHOR), Karlskov-Mortensen, Peter² (AUTHOR) pkm@sund.ku.dk

Publikováno v: Mammalian Genome. Mar2024, Vol. 35 Issue 1, p77-89. 13p.