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

Authors: Andrea Wilderman, Eva D’haene, Machteld Baetens, Tara N. Yankee, Emma Wentworth Winchester, Nicole Glidden, Ellen Roets, Jo Van Dorpe, Sandra Janssens, Danny E. Miller, Miranda Galey, Kari M. Brown, Rolf W. Stottmann, Sarah Vergult, K. Nicole Weaver, Samantha A. Brugmann, Timothy C. Cox, Justin Cotney

Source: Nature Communications, Vol 15, Iss 1, Pp 1-23 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/d8bfbb8f7d514cd7a8d154657d67b4ca

Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac development

Authors: Eliyahu Perl, Padmapriyadarshini Ravisankar, Manu E. Beerens, Lejla Mulahasanovic, Kelly Smallwood, Marion Bermúdez Sasso, Carina Wenzel, Thomas D. Ryan, Matej Komár, Kevin E. Bove, Calum A. MacRae, K. Nicole Weaver, Carlos E. Prada, Joshua S. Waxman

Source: HGG Advances, Vol 3, Iss 3, Pp 100115- (2022)

Subject Terms: Syntaxin 4, SNARE, vesicular transport, congenital heart disease, dilated cardiomyopathy, conduction defects, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000318; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/69a4013e43b2410292ce66f8fe329a35

POLRMT mutations impair mitochondrial transcription causing neurological disease

Authors: Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville, Emma L. Blakely, Jack J. Collier, Emily Hoberg, Viktor Stránecký, Hana Hartmannová, Anthony J. Bleyer, Kim L. McBride, Sasigarn A. Bowden, Zuzana Korandová, Alena Pecinová, Hans-Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark A. Tarnopolsky, Lauren I. Brady, K. Nicole Weaver, Carlos E. Prada, Katrin Õunap, Monica H. Wojcik, Sander Pajusalu, Safoora B. Syeda, Lynn Pais, Elicia A. Estrella, Christine C. Bruels, Louis M. Kunkel, Peter B. Kang, Penelope E. Bonnen, Tomáš Mráček, Stanislav Kmoch, Gráinne S. Gorman, Maria Falkenberg, Claes M. Gustafsson, Robert W. Taylor

Source: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/35895711cd76476484b7067a5177046a

Management of Airway Obstruction in Infants With Pierre Robin Sequence

Authors: Christopher M. Runyan, MD, PhD, Armando Uribe-Rivera, DDS, Shahryar Tork, MD, Tasneem A. Shikary, MD, Zarmina Ehsan, MD, K. Nicole Weaver, MD, Md Monir Hossain, PhD, MSc, Christopher B. Gordon, MD, Brian S. Pan, MD

Source: Plastic and Reconstructive Surgery, Global Open, Vol 6, Iss 5, p e1688 (2018)

Subject Terms: Surgery, RD1-811

File Description: electronic resource

Relation: http://journals.lww.com/prsgo/fulltext/10.1097/GOX.0000000000001688; https://doaj.org/toc/2169-7574

Access URL: https://doaj.org/article/8b37a9f9142f43a4af58e77275e8ff38