Ayaka Ohashi Daisuke Matsubara Yoshitaka Mizobe Tadahiro Mitani Marika Ono Miki Nozawa Makoto Ito Toshihiro Tajima Hitoshi Osaka
Journal of burn care & research : official publication of the American Burn Association 2024年2月
Thermal airway injuries, usually accompanied by facial burns, require emergency management. We encountered a pediatric case of a late airway-scalding injury without any initial signs of scalding on the face or inside the oral cavity. A 16-month-ol...
Rauan Kaiyrzhanov Aboulfazl Rad Sheng-Jia Lin Aida Bertoli-Avella Wouter W Kallemeijn Annie Godwin Maha S Zaki Kevin Huang Tracy Lau Cassidy Petree Stephanie Efthymiou Ehsan Ghayoor Karimiani Maja Hempel Elizabeth A Normand Sabine Rudnik-Schöneborn Ulrich A Schatz Marc P Baggelaar Muhammad Ilyas Tipu Sultan Javeria Raza Alvi Manizha Ganieva Ben Fowler Ruxandra Aanicai Gulsen Akay Tayfun Abdulaziz Al Saman Abdulrahman Alswaid Nafise Amiri Nilufar Asilova Vorasuk Shotelersuk Patra Yeetong Matloob Azam Meisam Babaei Gholamreza Bahrami Monajemi Pouria Mohammadi Saeed Samie Selina Husna Banu Jorge Pinto Basto Fanny Kortüm Mislen Bauer Peter Bauer Christian Beetz Masoud Garshasbi Awatif Hameed Issa Wafaa Eyaid Hind Ahmed Narges Hashemi Kazem Hassanpour Isabella Herman Sherozjon Ibrohimov Ban A Abdul-Majeed Maria Imdad Maksudjon Isrofilov Qassem Kaiyal Suliman Khan Brian Kirmse Janet Koster Charles Marques Lourenço Tadahiro Mitani Oana Moldovan David Murphy Maryam Najafi Davut Pehlivan Maria Eugenia Rocha Vincenzo Salpietro Miriam Schmidts Adel Shalata Mohammad Mahroum Jawabreh Kassem Talbeya Robert W Taylor Dayana Vazquez Annalisa Vetro Hans R Waterham Mashaya Zaman Tina A Schrader Wendy K Chung Renzo Guerrini James R Lupski Joseph Gleeson Mohnish Suri Yalda Jamshidi Kailash P Bhatia Barbara Vona Michael Schrader Mariasavina Severino Matthew Guille Edward W Tate Gaurav K Varshney Henry Houlden Reza Maroofian
Brain : a journal of neurology 2023年11月
The acyl-CoA-binding domain-containing protein 6 (ACBD6) is ubiquitously expressed, plays a role in the acylation of lipids and proteins, and regulates the N-myristoylation of proteins via N-myristoyltransferase enzymes (NMTs). However, its precis...
Ruizhi Duan Dana Marafi Zhi-Jie Xia Bobby G Ng Reza Maroofian Farhana Taher Sumya Ahmed K Saad Haowei Du Jawid M Fatih Jill V Hunter Hasnaa M Elbendary Shahid M Baig Uzma Abdullah Zafar Ali Stephanie Efthymiou David Murphy Tadahiro Mitani Marjorie A Withers Shalini N Jhangiani Zeynep Coban-Akdemir Daniel G Calame Davut Pehlivan Richard A Gibbs Jennifer E Posey Henry Houlden Vladimir V Lupashin Maha S Zaki Hudson H Freeze James R Lupski
Journal of inherited metabolic disease 2023年9月
Biallelic variants in genes for seven out of eight subunits of the conserved oligomeric Golgi complex (COG) are known to cause recessive congenital disorders of glycosylation (CDG) with variable clinical manifestations. COG3 encodes a constituent ...
Monica H Wojcik Chloe M Reuter Shruti Marwaha Medhat Mahmoud Michael H Duyzend Hayk Barseghyan Bo Yuan Philip M Boone Emily E Groopman Emmanuèle C Délot Deepti Jain Alba Sanchis-Juan Lea M Starita Michael Talkowski Stephen B Montgomery Michael J Bamshad Jessica X Chong Matthew T Wheeler Seth I Berger Anne O'Donnell-Luria Fritz J Sedlazeck Danny E Miller
American journal of human genetics 110(8) 1229-1248 2023年8月
Despite advances in clinical genetic testing, including the introduction of exome sequencing (ES), more than 50% of individuals with a suspected Mendelian condition lack a precise molecular diagnosis. Clinical evaluation is increasingly undertaken...
Daniel G Calame Tianyu Guo Chen Wang Lillian Garrett Angad Jolly Moez Dawood Alina Kurolap Noa Zunz Henig Jawid M Fatih Isabella Herman Haowei Du Tadahiro Mitani Lore Becker Birgit Rathkolb Raffaele Gerlini Claudia Seisenberger Susan Marschall Jill V Hunter Amanda Gerard Alexis Heidlebaugh Thomas Challman Rebecca C Spillmann Shalini N Jhangiani Zeynep Coban-Akdemir Seema Lalani Lingxiao Liu Anya Revah-Politi Alejandro Iglesias Edwin Guzman Evan Baugh Nathalie Boddaert Sophie Rondeau Clothide Ormieres Giulia Barcia Queenie K G Tan Isabelle Thiffault Tomi Pastinen Kazim Sheikh Suur Biliciler Davide Mei Federico Melani Vandana Shashi Yuval Yaron Mary Steele Emma Wakeling Elsebet Østergaard Lusine Nazaryan-Petersen Francisca Millan Teresa Santiago-Sim Julien Thevenon Ange-Line Bruel Christel Thauvin-Robinet Denny Popp Konrad Platzer Pawel Gawlinski Wojciech Wiszniewski Dana Marafi Davut Pehlivan Jennifer E Posey Richard A Gibbs Valerie Gailus-Durner Renzo Guerrini Helmut Fuchs Martin Hrabě de Angelis Sabine M Hölter Hoi-Hung Cheung Shen Gu James R Lupski
American journal of human genetics 2023年7月
DExD/H-box RNA helicases (DDX/DHX) are encoded by a large paralogous gene family; in a subset of these human helicase genes, pathogenic variation causes neurodevelopmental disorder (NDD) traits and cancer. DHX9 encodes a BRCA1-interacting nuclear ...
自治医科大学
医学部