Results 191 to 200 of about 6,948,099 (297)

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

Perceived Stress and Ocular Surface Symptoms: A Survey-Based Study of Medical Students. [PDF]

Vision (Basel)
Elubous K, Alma'lawani N, Abuelsamen K, Sbool A, Obiedat K, Al-Zahiri R, Ghazzawi R, Al-Tamimi O, El-Faouri M.   +8 more
europepmc   +1 more source

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio, Vishani Nimish Patel, McKenna Walsh, Erick Messias, Ping‐I Lin   +4 more
wiley   +1 more source

Beyond Nature's Blueprint: Macrocyclic Peptides Containing Unnatural Amino Acids in Therapeutic Development

Angewandte Chemie, EarlyView.
Strategic incorporation of unnatural amino acids transforms macrocyclic peptides into drug‐like molecules capable of engaging challenging targets. These building blocks enhance stability, permeability, and bioavailability, accelerating the development of next‐generation peptide therapeutics.
Krishna K. Sharma, Komal Sharma, Anku Sharma, Kamya Rao, Rahul Jain, Brett VanVeller   +5 more
wiley   +2 more sources

Contemporary Perspectives and Future Directions in Ophthalmic and Physiological Optics. [PDF]

Ophthalmic Physiol Opt
Wood JM, Pardhan S.
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Prevalence of Dry Eye Disease in Western India

International Journal of Contemporary Medical Research [IJCMR], 2019
Neha Shilpy, Dhaval Bharatkumar Patel
openaire   +1 more source

Structure and Function of a Multi‐Megadalton Virus‐Like Proteolytic Dodecahedron

Angewandte Chemie, EarlyView.
Zuzalysin, a virulence metallopeptidase of the periodontal pathogen Porphyromonas gingivalis, is secreted as a latent, flexible ≈95‐kDa monomer. Calcium triggers cysteine‐switch activation and hierarchical assembly into pentamers, bipentamers, tripentamers, and a ≈5.6‐MDa, ≈355‐Å dodecahedron. Structures at 1.8–3.6 Å reveal a virus‐sized catalytic cage
Mariusz Madej, Arturo Rodríguez‐Banqueri, Danuta Mizgalska, Borys Szmigielski, Zuzanna Nowakowska, Małgorzata Benedyk‐Machaczka, Monika Bzowska, Katarzyna Mikruta, Juan Sebastián Ramírez‐Larrota, Chinanu Agunanne, Olivier Julien, Anthony J. O'Donoghue, Carsten Scavenius, Mario López‐Martín, Enrique Marcos, Łukasz Koziej, Sebastian Glatt, Pablo Guerra, Ulrich Eckhard, Jan Potempa, F. Xavier Gomis‐Rüth   +20 more
wiley   +2 more sources

Prevalences of Known and Presumed Inherited Eye Diseases in Pugs in Germany. [PDF]

Vet Ophthalmol
Lemle C, Koch C, Meyer-Lindenberg A.
europepmc   +1 more source

Cognitive Dysfunction in Chronic Rhinosinusitis: A Scoping Review

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Cognitive dysfunction is increasingly recognized as an extra‐nasal manifestation of chronic rhinosinusitis (CRS). This scoping review characterizes the primary evidence on cognition in adult CRS, covering measures, treatment response, and incident dementia.
Luke M. O'Neil, Hannan A Qureshi, Logan Lindemann, David J. Cvancara, Ashton E. Lehmann, Aria Jafari   +5 more
wiley   +1 more source