Results 101 to 110 of about 44,683 (266)

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

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

Trap-assisted tunnelling current in MIM structures

Open Physics, 2011
Racko Juraj, Mikolášek Miroslav, Granzner Ralf, Breza Juraj, Donoval Daniel, Grmanová Alena, Harmatha Ladislav, Schwierz Frank, Fröhlich Karol   +8 more
doaj   +1 more source

Translation and Cross‐Cultural Adaptation of the Chronic Rhinosinusitis Control Test for Global Use

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction The Chronic Rhinosinusitis Control Test (CRCT) is a patient‐reported outcome measure (PROM) written in English that is psychometrically validated to measure chronic rhinosinusitis control. Because the availability of translated PROMs is a driver of data equity—collection of data that is fair and generally representative—our ...
Hye K. Pae, Detong Xia, Hanzhong Sun, Yudi Chen, Kwangoh Yi, Minjeong Song, Eriko Sato, Ali R. Abasi, Jody Ballah, Anna Babarczy, Raymond Bertram, Agnieszka Biernacka, Mable Chan, Teresa Civera, Irina Dubinina, Doğu Erdener, María Isabel Maldonado García, Ali Garib, Tuomo Häikiö, Fuk‐chuen HO, Li‐Yu Hung, R. Malatesha Joshi, Oksana Kanerva, Kiranpreet Kaur Baath, Björn Köhnlein, Dalibor Kučera, Paula Luegi, Yustinus Calvin Gai Mali, Sivan Medina, Stefan Milosavljević, Amna Mirza, Mohamed Y. Mwamzandi, Fatemeh Nami, Anabella‐Gloria Niculescu‐Gorpin, Portia Padilla, Georgia Panayiotou, Manuel Perea, Luciano Perondi, Hiển Phạm, Rasmus Puggaard‐Rode, Anurag Rimzhim, Sreeparna Sarkar, David L. Share, Gláucia V. Silva, Antônio R. M. Simões, Charlotte Stormbom, Titima Suthiwan, Katsuo Tamaoka, Mila Tasseva‐Kurktchieva, Paweł Urbanik, An Van, Katie M. Phillips, Ahmad R. Sedaghat   +52 more
wiley   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Postcranial anatomy and osteohistology of an early prozostrodont cynodont from the Upper Triassic of Brazil

The Anatomical Record, EarlyView.
Abstract Prozostrodon brasiliensis, a probainognathian cynodont of the clade Prozostrodontia, is recognized as a key taxon for understanding the origin of Mammaliaformes and mammals. Despite detailed investigations of its cranial anatomy, the postcranial skeleton has received comparatively less attention.
Iasmim M. Michelotti, Lívia Roese‐Miron, Brodsky Dantas Macedo Farias, Marina Bento Soares, Leonardo Kerber   +4 more
wiley   +1 more source

Biochar‐based fertilizers improve nutrient use efficiency in sunflower grown on a subtropical tidal soil

Biofuels, Bioproducts and Biorefining, EarlyView.
Abstract Improving fertilizer use efficiency is essential for reducing environmental pollution, sustaining agricultural production, and maximizing the economic profitability of crop production systems. This study tested the hypothesis that the formulation strategy of biochar‐based fertilizers, rather than nutrient addition alone, is associated with ...
Md. Al‐Amin, Miftahul Jannat Mim, S. M. Mahbubul Alam, Shamim Mia, M. M. Masud, Gopal Saha, Md. Abdul Kader, Keiji Jindo   +7 more
wiley   +1 more source

A nanoplatform that induces dual‐amino acid deprivation to reverse tumor immunosuppression and enhance metabolic immunotherapy

BMEMat, EarlyView.
ZIF‐8‐based nanoparticles co‐delivering CB‐839 (glutaminase inhibitor) and 1‐MT (IDO1 inhibitor), dual‐targeting glutamine/tryptophan metabolism to induce immunogenic cell death, activate STING, block kynurenine production, reverse immunosuppression, and enhance cancer immunotherapy to suppress primary/distant tumors.
Wenli Ning, Yunhan Sun, Mingyang Li, Shilu Liu, Fangjie Yi, Hongfei Wang, Ruibing Bai, Dongdong Liu, Fen Zhao, Guiqiang Zhang, Xiao Fu   +10 more
wiley   +1 more source

Perovskite Photodetectors at the Intelligence Frontier: From Tunable Materials to Adaptive Optoelectronic Systems

Carbon Energy, EarlyView.
This comprehensive review presents a progressive roadmap for perovskite vision detectors. Centered on perovskite‐based artificial perception, the graphic illustrates a systematic evolution: starting with fundamental material engineering and device architectures, advancing toward complex functional strategies such as flexible neuromorphic imaging ...
Chenglong Li, Wei Qu, Deepak Kumar, Naini Jain, Nur Wardina Syahirah binti Mohamad Fadil, Nur Najiha binti Ahmad Rasid, Emannuel Kymakis, Maria Vasilopoulou, Chunxiong Bao, Feng Gao, Peng Gao, Sanjeev Kumar Sharma, Mohammad Khaja Nazeeruddin, Abd. Rashid bin Mohd Yusoff, Haotong Wei   +14 more
wiley   +1 more source

Ternary Crosslinking Builds Nanosheet Hard Carbon and Interfacial Polarization Regulates Na⁺ Kinetics in Hard Carbon Anodes

Carbon Energy, EarlyView.
Nanosheet Hard Carbon for Fast Na+ Storage ABSTRACT Hard‐carbon anodes for sodium‐ion batteries are often constrained by low initial Coulombic efficiency, severe interfacial polarization, and sluggish Na⁺ kinetics, especially when porosity engineering amplifies electrolyte consumption.
Dongke Cai, Fan Liu, Shuai Jiang, Shuwen Zhang, Bing Li, Qian Zhao   +5 more
wiley   +1 more source