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David E Clouthier

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Articles 49
Citations 1064
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Recent Articles
1.
Kanai S, Garcia C, Augustus M, Sharafeldeen S, Brooks E, Sucharov J, et al.
bioRxiv . 2024 Sep; PMID: 39345358
Vertebrate jaw development is coordinated by highly conserved ligand-receptor systems such as the peptide ligand Endothelin 1 (Edn1) and Endothelin receptor type A (Ednra), which are required for patterning of...
2.
Brugmann S, Clouthier D, Fantauzzo K, Harris M, Jeong J, Saint-Jeannet J, et al.
Am J Med Genet A . 2024 Apr; 194(8):e63615. PMID: 38563316
The Society for Craniofacial Genetics and Developmental Biology (SCGDB) held its 46th Annual Meeting at Cincinnati Children's Hospital Medical Center in Cincinnati, Ohio on October 10th-12th, 2023. On the first...
3.
Kanai S, Clouthier D
Development . 2023 Dec; 150(24). PMID: 38078652
Since the discovery of endothelin 1 (EDN1) in 1988, the role of endothelin ligands and their receptors in the regulation of blood pressure in normal and disease states has been...
4.
Baxi A, Jourdeuil K, Cox T, Clouthier D, Tavares A
Dev Dyn . 2023 May; 252(10):1303-1315. PMID: 37183792
Background: Genetic variants of the transcription factor SIX1 and its co-factor EYA1 underlie 50% of Branchio-oto-renal syndrome (BOR) cases. BOR is characterized by craniofacial defects, including malformed middle ear ossicles...
5.
Stottmann R, Harris M, Saint-Jeannet J, Merrill A, Clouthier D
Am J Med Genet A . 2023 Apr; 191(7):1994-2002. PMID: 37040531
The Society for Craniofacial Genetics and Developmental Biology (SCGDB) held its 45th Annual Meeting at the Sanford Consortium for Regenerative Medicine at the University of California, San Diego on October...
6.
Micke K, Elfman H, Fantauzzo K, McGrath P, Clouthier D, McCandless S, et al.
Prenat Diagn . 2023 Feb; 43(4):544-552. PMID: 36759743
Introduction: Whole exome sequencing (WES) has increasingly become integrated into prenatal care and genetic testing pathways. Current studies of prenatal WES have focused on diagnostic yield. The possibility of obtaining...
7.
Prummel K, Crowell H, Nieuwenhuize S, Brombacher E, Daetwyler S, Soneson C, et al.
Nat Commun . 2022 Mar; 13(1):1677. PMID: 35354817
The mesothelium lines body cavities and surrounds internal organs, widely contributing to homeostasis and regeneration. Mesothelium disruptions cause visceral anomalies and mesothelioma tumors. Nonetheless, the embryonic emergence of mesothelia remains...
8.
Brugmann S, Merrill A, Saint-Jeannet J, Stottmann R, Clouthier D
Am J Med Genet A . 2022 Mar; 188(7):2258-2266. PMID: 35352468
The Society for Craniofacial Genetics and Developmental Biology (SCGDB) held its 44th Annual Meeting in a virtual format on October 18-19, 2021. The SCGDB meeting included presentation of the SCGDB...
9.
Kanai S, Heffner C, Cox T, Cunningham M, Perez F, Bauer A, et al.
Dis Model Mech . 2022 Mar; 15(4). PMID: 35284927
Auriculocondylar syndrome 2 (ARCND2) is a rare autosomal dominant craniofacial malformation syndrome linked to multiple genetic variants in the coding sequence of phospholipase C β4 (PLCB4). PLCB4 is a direct...
10.
Abe M, Cox T, Firulli A, Kanai S, Dahlka J, Lim K, et al.
Development . 2021 Aug; 148(17). PMID: 34383890
Neural crest cells (NCCs) within the mandibular and maxillary prominences of the first pharyngeal arch are initially competent to respond to signals from either region. However, mechanisms that are only...