Identifying key underlying regulatory networks and predicting targets of orphan C/D box SNORD116 snoRNAs in Prader-Willi syndrome.

Autor: Gilmore RB; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT, 06030, USA.; Institute for Human Genetics, Heidelberg University Hospital, Heidelberg, BW, 69120, Germany., Liu Y; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT, 06030, USA., Stoddard CE; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT, 06030, USA., Chung MS; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT, 06030, USA., Carmichael GG; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT, 06030, USA., Cotney J; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT, 06030, USA.; Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.

Publikováno v: Nucleic acids research [Nucleic Acids Res] 2024 Nov 22. Date of Electronic Publication: 2024 Nov 22.

Rare variants analyses suggest novel cleft genes in the African population.

Autor: Alade A; Iowa Institute of Oral Health Research, University of Iowa, Iowa City, IA, USA. Azeez-alade@uiowa.edu.; Department of Epidemiology, College of Public Health, University of Iowa, Butali Laboratory, ML2198, 500 Newton Road, Iowa City, IA, 52242, USA. Azeez-alade@uiowa.edu., Mossey P; Department of Orthodontics, University of Dundee, Dundee, UK., Awotoye W; Department of Orthodontics, College of Dentistry, University of Iowa, Iowa City, IA, USA., Busch T; Iowa Institute of Oral Health Research, University of Iowa, Iowa City, IA, USA., Oladayo AM; Iowa Institute of Oral Health Research, University of Iowa, Iowa City, IA, USA., Aladenika E; Iowa Institute of Oral Health Research, University of Iowa, Iowa City, IA, USA., Olujitan M; Iowa Institute of Oral Health Research, University of Iowa, Iowa City, IA, USA., Wentworth E; Department of Genetics and Genome Sciences, University of Connecticut, Farmington, CT, USA.; Graduate Program in Genetics and Developmental Biology, University of Connecticut School of Medicine, Farmington, CT, USA., Anand D; Department of Biological Sciences, University of Delaware, Newark, DE, USA., Naicker T; Department of Paediatrics, Clinical Genetics, University of KwaZulu-Natal and Inkosi Albert Luthuli Central Hospital, Durban, South Africa., Gowans LJJ; Komfo Anokye Teaching Hospital and Kwame Nkrumah University of Science and Technology, Kumasi, Ghana., Eshete MA; Department of Surgery, School of Medicine, Addis Ababa University, Addis Ababa, Ethiopia., Adeyemo WL; Department of Oral and Maxillofacial Surgery, College of Medicine, University of Lagos, Idi-araba, Lagos, Nigeria., Zeng E; Iowa Institute of Oral Health Research, University of Iowa, Iowa City, IA, USA., Van Otterloo E; Iowa Institute of Oral Health Research, University of Iowa, Iowa City, IA, USA.; Department of Periodontics, College of Dentistry, University of Iowa, Iowa City, IA, USA., O'Rorke M; Department of Epidemiology, College of Public Health, University of Iowa, Butali Laboratory, ML2198, 500 Newton Road, Iowa City, IA, 52242, USA., Adeyemo A; National Human Genomic Research Institute, Bethesda, MD, USA., Murray JC; Department of Pediatrics, University of Iowa, Iowa City, IA, USA., Cotney J; Department of Genetics and Genome Sciences, University of Connecticut, Farmington, CT, USA., Lachke SA; Department of Biological Sciences, University of Delaware, Newark, DE, USA.; Center for Bioinformatics and Computational Biology, University of Delaware, Newark, DE, USA., Romitti P; Department of Epidemiology, College of Public Health, University of Iowa, Butali Laboratory, ML2198, 500 Newton Road, Iowa City, IA, 52242, USA., Butali A; Iowa Institute of Oral Health Research, University of Iowa, Iowa City, IA, USA. azeez-butali@uiowa.edu.; Department of Oral Pathology, Radiology and Medicine, College of Dentistry, University of Iowa, Butali Laboratory, ML2198, 500 Newton Road, Iowa City, IA, 52242, USA. azeez-butali@uiowa.edu.

Publikováno v: Scientific reports [Sci Rep] 2024 Jun 20; Vol. 14 (1), pp. 14279. Date of Electronic Publication: 2024 Jun 20.

A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development.

Autor: Wilderman A; Graduate Program UConn Health, Farmington, CT, USA., D'haene E; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Baetens M; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Yankee TN; Graduate Program UConn Health, Farmington, CT, USA., Winchester EW; Graduate Program UConn Health, Farmington, CT, USA.; University of Connecticut School of Dental Medicine, Farmington, CT, USA., Glidden N; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT, USA., Roets E; Department of Obstetrics, Women's Clinic, Ghent University Hospital, Ghent, Belgium., Van Dorpe J; Department of Pathology, Ghent University, Ghent University Hospital, Ghent, Belgium., Janssens S; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Miller DE; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Washington, WA, USA.; Seattle Children's Hospital, Seattle, WA, 98195, USA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, 98195, USA.; Brotman Baty Institute of Precision Medicine, University of Washington, Seattle, WA, 98195, USA., Galey M; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Washington, WA, USA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, 98195, USA., Brown KM; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Stottmann RW; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University School of Medicine, Columbus, OH, USA., Vergult S; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Weaver KN; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Brugmann SA; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Cox TC; Department of Oral & Craniofacial Sciences, University of Missouri Kansas City, Kansas City, MO, USA.; Department of Pediatrics, University of Missouri Kansas City, Kansas City, MO, USA., Cotney J; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT, USA. cotney@uchc.edu.; Institute for Systems Genomics, University of Connecticut, Storrs, CT, USA. cotney@uchc.edu.

Publikováno v: Nature communications [Nat Commun] 2024 Jan 02; Vol. 15 (1), pp. 136. Date of Electronic Publication: 2024 Jan 02.

Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes.

Autor: Yankee TN; Graduate Program in Genetics and Developmental Biology, UConn Health, Farmington, CT, 06030, USA., Oh S; University of Connecticut School of Medicine, Department of Genetics and Genome Sciences, Farmington, CT, 06030, USA., Winchester EW; Graduate Program in Genetics and Developmental Biology, UConn Health, Farmington, CT, 06030, USA., Wilderman A; Graduate Program in Genetics and Developmental Biology, UConn Health, Farmington, CT, 06030, USA., Robinson K; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA., Gordon T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics Laboratory, Houston, TX, 77021, USA., VanOudenhove J; University of Connecticut School of Medicine, Department of Genetics and Genome Sciences, Farmington, CT, 06030, USA., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA., Leslie EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA., Cotney J; University of Connecticut School of Medicine, Department of Genetics and Genome Sciences, Farmington, CT, 06030, USA. cotney@uchc.edu.; Institute for Systems Genomics, University of Connecticut, Storrs, CT, 06269, USA. cotney@uchc.edu.

Publikováno v: Nature communications [Nat Commun] 2023 Aug 02; Vol. 14 (1), pp. 4623. Date of Electronic Publication: 2023 Aug 02.

ALX1-related frontonasal dysplasia results from defective neural crest cell development and migration.

Autor: Pini J, Kueper J, Hu YD, Kawasaki K, Yeung P, Tsimbal C, Yoon B, Carmichael N, Maas RL, Cotney J, Grinblat Y, Liao EC

Publikováno v: EMBO molecular medicine [EMBO Mol Med] 2022 Jul 07; Vol. 14 (7), pp. e16289.