Results 281 to 290 of about 1,737,375 (313)

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source

A narrative history of the town of Cohasset, Massachusetts /

, 1898
E. Victor Bigelow, Priscilla L. Collier
openalex   +2 more sources

A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri, Jessica Gold, Nina Gold, Alanna Strong   +3 more
wiley   +1 more source

The Blue-Gray Gnatcatcher in Massachusetts

, 1903
Francis H. Allen
openalex   +2 more sources

A Transcriptome‐Wide Mendelian Randomization Study in Isolated Human Immune Cells Highlights Risk Genes Involved in Viral Infections and Potential Drug Repurposing Opportunities for Schizophrenia

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia is a neurodevelopmental psychiatric disorder characterized by symptoms of psychosis, thought disorder, and flattened affect. Immune mechanisms are associated with schizophrenia, though the precise nature of this relationship (causal, correlated, consequential) and the mechanisms involved are not fully understood.
David Stacey, Liam Gaziano, Preethi Eldi, Catherine Toben, Beben Benyamin, S. Hong Lee, Elina Hyppönen   +6 more
wiley   +1 more source

FDA Recalls of Image Guidance Systems for Sinus and Skull Base Surgery, 2003–2024

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Surgeons use stereotactic image guidance systems (IGS) to help navigate complex anatomy. However, the FDA has received reports of IGS malfunction linked to operative delays and complications. We investigated FDA recalls of IGS between 2003 and 2024.
Thriaksh Rajan, Rodney J. Schlosser, Zachary M. Soler, Patrick Walz, Kyle C. Wu, Ralph B. Metson, Stacey T. Gray, Alan D. Workman, Vinay K. Rathi   +8 more
wiley   +1 more source

An Address Delivered to the Graduating Class at the Massachusetts Medical College [PDF]

Thomas Hill
openalex   +1 more source

Expert Strategies: Skull Base Reconstruction—Global Perspectives, Insights, and Algorithms through a Mixed Methods Approach

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective There is limited consensus on endoscopic skull base surgery (ESBS) reconstruction principles. This study aims to generate comprehensive themes regarding ESBS reconstruction by pooling the experiences of ESBS experts, with comparison to a literature review of current published evidence.
Edward C. Kuan, Vidit Talati, Jagatkumar A. Patel, Theodore V. Nguyen, Arash Abiri, Jonathan C. Pang, Khodayar Goshtasbi, Lauren Liu, John R. Craig, Peter Papagiannopoulos, Katie M. Phillips, Bobby A. Tajudeen, Nithin D. Adappa, James N. Palmer, Ahmad R. Sedaghat, Eric W. Wang, Vijay Anand, Pete S. Batra, Marvin Bergsneider, Manuel Bernal‐Sprekelsen, Benjamin S. Bleier, Paolo Cappabianca, Ricardo L. Carrau, Roy R. Casiano, Paolo Castelnuovo, Luigi M. Cavallo, Marc A. Cohen, Iacopo Dallan, Jean Anderson Eloy, Ivan H. El‐Sayed, James J. Evans, Juan C. Fernandez‐Miranda, Marco Ferrari, Sebastien Froelich, Paul A. Gardner, Christos Georgalas, Stacey T. Gray, Ehab Y. Hanna, Richard J. Harvey, Sang Duk Hong, Peter H. Hwang, Daniel F. Kelly, Doo‐Sik Kong, Ming‐Ying Lan, John Y. K. Lee, Corinna G. Levine, James K. Liu, Davide Locatelli, Cem Meço, Erin L. McKean, Piero Nicolai, Gurston G. Nyquist, Kazuhiro Omura, Thibault Passeri, Zara M. Patel, Maria Peris Celda, Carlos Pinheiro Neto, Danny M. Prevedello, Mindy R. Rabinowitz, Shaan M. Raza, Pablo F. Recinos, Marc R. Rosen, Zoukaa B. Sargi, Rodney J. Schlosser, Theodore H. Schwartz, Raj Sindwani, Carl H. Snyderman, Aldo C. Stamm, Brian D. Thorp, Mario Turri‐Zanoni, Marilene B. Wang, Wei‐Hsin Wang, Ian J. Witterick, Tae‐Bin Won, Bradford A. Woodworth, Peter‐John Wormald, Gabriel Zada, Shirley Y. Su   +77 more
wiley   +1 more source

The Development and Validation of the Smell‐Qx Questionnaire, Based on a Systematic Review of the Literature and the COMET Initiative on the Development of Core Outcome Sets for Clinical Trials in Olfactory Disorders

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory dysfunction affects up to 22% of the population. Accurate assessment is vital for diagnosis and tracking outcomes, often using patient‐reported outcome measures (PROMs). Aims We aimed to develop and validate a novel questionnaire for assessing olfactory and gustatory dysfunction.
Matt Lechner, Alexander Fjaeldstad, Umar Rehman, Jacklyn Liu, David Boniface, Jim Boardman, Duncan Boak, Aytug Altundag, Johannes Frasnelli, Simon Gane, Eric Holbrook, Julien Hsieh, Caroline Huart, Iordanis Konstantinidis, Basile N. Landis, Valerie J. Lund, Alberto Macchi, Eri Mori, Christian Mueller, Joaquim Mullol, Simona Negoias, Zara M. Patel, Jayant M. Pinto, Sophia Poletti, Vijay Ramakrishnan, Philippe Rombaux, Jan Vodicka, Antje Welge‐Luessen, Katherine L. Whitcroft, Carol Yan, Carl Philpott, Thomas Hummel   +31 more
wiley   +1 more source

Geology of Massachusetts and Rhode Island

B. K. Emerson
semanticscholar   +1 more source