Results 121 to 130 of about 672,718 (300)

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Anion-dependent extraction mechanisms of dibenzothiophene in ionic liquids: DFT insights into molecular interactions for enhanced desulfurization

Journal of Ionic Liquids
The removal of sulfur-containing compounds, such as dibenzothiophene DBT, from petroleum-derived fuels remains a critical challenge due to the limitations of conventional hydrodesulfurization methods.
Arnaldo Alvarez, Jorge Enrique Lopez Galan   +1 more
doaj   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Fabrication of lightweight polymer products with excellent mechanical properties using a novel double-sided in-mold decoration combined with fiber-reinforced microcellular injection molding process

Journal of Materials Research and Technology
This paper introduces a novel molding process known as the double-sided in-mold decoration combined with fiber-reinforced microcellular injection molding (DS-IMD/FR-MIM) process.
Shengrui Yu, Kai Wang, Lei Xu, Senzhen Song, Jiangen Yang, Wen Han, Huamin Zhou   +6 more
doaj   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

An efficient deep learning model for brain tumour detection with privacy preservation

CAAI Transactions on Intelligence Technology, EarlyView., 2023
Abstract Internet of medical things (IoMT) is becoming more prevalent in healthcare applications as a result of current AI advancements, helping to improve our quality of life and ensure a sustainable health system. IoMT systems with cutting‐edge scientific capabilities are capable of detecting, transmitting, learning and reasoning.
Mujeeb Ur Rehman, Arslan Shafique, Imdad Ullah Khan, Yazeed Yasin Ghadi, Jawad Ahmad, Mohammed S. Alshehri, Mimonah Al Qathrady, Majed Alhaisoni, Muhammad H. Zayyan   +8 more
wiley   +1 more source

Contra‐Diffusion Engineering of Single‐Atom Catalytic Interlayers Enables Reversible Sulfur Redox Chemistry

Angewandte Chemie International Edition, EarlyView.
A contra‐diffusion strategy is introduced to grow uniformly distributed Co–Nx single‐atom catalysts (CoSAs) within a carbonized aramid nanofiber (CANF) interlayer. The resulting CD‐CANF enables efficient polysulfide regulation, low metal loading, and exceptional long‐term cycling stability in lithium–sulfur batteries. ABSTRACT Achieving durable lithium–
Yan‐Jhang Chen, Tsung‐I. Yeh, Chia‐Yu Chang, Wei‐Ming Huang, Jing‐Yu Li, Mohamed Gamal Mohamed, Shiao‐Wei Kuo, Bing‐Joe Hwang, Yun‐Sheng Ye   +8 more
wiley   +1 more source

Multifunctional Metasurfaces for Bridging Terahertz Waves in Free Space and Waveguides

Advanced Physics Research, EarlyView.
A multifunctional terahertz metasurface capable of simultaneous orthogonal polarization conversion and phase modulation is integrated onto a dielectric slab waveguide, thereby enabling efficient free‐space‐to‐guided‐wave coupling. By implementing tailored phase gradients on the metasurface, we demonstrate the formation of a focused spot within the ...
Jinhui Lu, Yushan Chen, Min Zhang, Hong Su, Ling Li, Huawei Liang   +5 more
wiley   +1 more source

Quantitative assessment of masticatory muscles based on skull muscle attachment areas in Carnivora

The Anatomical Record, EarlyView.
Abstract Masticatory muscles are composed of the temporalis, masseter, and pterygoid muscles in mammals. Each muscle has a different origin on the skull and insertion on the mandible; thus, all masticatory muscles contract in different directions. Collecting in vivo data and directly measuring the masticatory muscles anatomically in various Carnivora ...
Kai Ito, Mugino O. Kubo, Ryo Kodera, Sei‐ichiro Takeda, Hideki Endo   +4 more
wiley   +1 more source