Results 81 to 90 of about 28,941 (266)

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat

Journal of Clinical Laboratory Analysis, EarlyView.
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada, Horacio Rivera, Luis E. Figuera, Patricio Barros‐Núñez, José Luis Castrillo, Carlos Córdova‐Fletes, Thania Alejandra Aguayo‐Orozco   +6 more
wiley   +1 more source

Breast Glandularity Distribution and Refining the Mean Glandular Dose Estimates in Digital Mammography

Journal of Medical Physics
Background: In mammography, radiation dose is typically expressed as the mean glandular dose (MGD), which represents the dose delivered to the glandular tissue of the breast.
Mirjeta Mediji Arifi, Mimoza Ristova
doaj   +1 more source

Dry Eye Disease Associated with Meibomian Gland Dysfunction: Focus on Tear Film Characteristics and the Therapeutic Landscape

Ophthalmology and Therapy, 2023
Meibomian gland dysfunction (MGD) is highly prevalent and is the leading cause of evaporative dry eye disease (DED). MGD is characterized by a reduction in meibum secretion and/or a change in meibum composition that results in the disruption of the tear ...
John D. Sheppard, Kelly K. Nichols
doaj   +1 more source

Microbial communities and functional diversity in seafood

JSFA reports, EarlyView.
Abstract Functional diversity encompasses ecosystem processes that enhance adaptability to environmental change. This study explores the diversity of microorganisms associated with seafood. In this paper, we present our knowledge of microbial diversity in relation to seafood.
Christian Larbi Ayisi, Samuel Ayeh Osei, Grace Afumwaa Boamah, Gertrude Dzifa Mensah   +3 more
wiley   +1 more source

Effect of COMT and UGT1A Variants on Clinical Response to Opicapone in Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is the second most common neurodegenerative disease. Symptomatic treatment is based on dopaminergic replacement. With disease progression, the initial benefit of levodopa becomes inconsistent, and motor complications emerge.
Elena Ojeda‐Lepe, Sergio García‐Díaz, Laura Muñoz‐Delgado, Miguel Martín‐Bórnez, Silvia Jesús, Dolores Buiza‐Rueda, Marta Bonilla‐Toribio, Rafael Díaz‐Belloso, Daniel Macías‐García, Astrid Adarmes‐Gómez, Antonio Luque‐Ambrosiani, Rocío Pineda‐Sánchez, Lorena Clavijo‐Jiménez, Fátima Carrillo‐García, Pilar Gómez‐Garre, Pablo Mir   +15 more
wiley   +1 more source

ZPAL MgD-III/22

The almost complete dinosaur femur (ZPAL MgD-III/22) was found in the Baynshire Formation (Mongolia) in 1963 during the Polish-Mongolian Paleontological Expeditions. ZPAL MgD-III/22 belonged to a representative of Titanosauriformes.
Witasik, M (via Mendeley Data)
core   +1 more source

Can Met-PET/CT Predict Sporadic Multiglandular Hyperparathyroidism? Report of a Case and Review of the Literature

Case Reports in Endocrinology, 2019
Background. Primary hyperparathyroidism (pHPT) is a common endocrine disorder of the parathyroid glands. In most cases pHPT is caused by single gland disease, but about 10% of patients suffer from sporadic multiglandular disease (MGD). Patients with MGD,
Andreas Hillenbrand, Johannes Lemke, Doris Henne-Bruns, Ambros J. Beer, Vikas Prasad   +4 more
doaj   +1 more source

The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease

Nucleic Acids Res., 2014
The Mouse Genome Database (MGD, http://www.informatics.jax.org) serves the international biomedical research community as the central resource for integrated genomic, genetic and biological data on the laboratory mouse.
J. Eppig, J. Blake, C. Bult, J. Kadin, J. Richardson   +4 more
semanticscholar   +1 more source

Gene Therapy for Amino Acid Decarboxylase Deficiency: Clinical and Imaging Outcomes in a French Cohort

Movement Disorders, EarlyView.
Abstract Background Intracerebral gene therapy is effective for amino acid decarboxylase (AADC) deficiency, but relationships between anatomical putaminal coverage, metabolic dynamics, and clinical recovery remain poorly understood. Objectives Assess safety, long‐term efficacy, and clinical–radiological correlations in a genetically diverse European ...
Clément Dunoyer, Gaëtan Poulen, Marie‐Céline François‐Heude, Eline Chauvet‐Piat, Bérénice Lecardonnel, Emmanuel Roze, Marie‐Ange Nguyen Morel, Domitille Gras, Adeline Quintard, Gaelle Baroux, Pierre Meyer, Philippe Coubes, Christophe Milesi, Julien Baleine, Chrystelle Sola, Vivien Szabo, Bénédicte Delye, Jana Haberlova, Mohamed Osman Eltahir Babiker, Mohammed Al Muqbil, Stéphanie Sanchez, Souad Touati, Nicolas Leboucq, Virginie Kouyoumdjian, Sylvia Sanquer, Denis Mariano‐Goulart, Thomas Roujeau, Agathe Roubertie   +27 more
wiley   +1 more source

Molecular Glue Degraders in Early Development for Cancer Therapy

Medicinal Research Reviews, EarlyView.
ABSTRACT Molecular glue degraders are an emerging class of small molecule allosteric modulators that induce or stabilize protein‐protein interactions, enabling targeted degradation of previously intractable proteins. By redirecting E3 ligases to recognize neosubstrates, proteins that are not typically recognized by a specific E3 ubiquitin ligase, they ...
E. Sila Ozdemir, Hyunbum Jang, Ozlem Keskin, Attila Gursoy, Ruth Nussinov   +4 more
wiley   +1 more source