Results 91 to 100 of about 704,033 (216)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source
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 +10 more
wiley +1 more source
Substrate‐Dependent Crosslinking by the Cytochrome P450 From Aminopyruvatide Biosynthesis
Angewandte Chemie, EarlyView.Substitutions in the aminopyruvatide precursor peptide altered the C─C linkage formed from a YLY motif by the P450 ApyO to a N─C linkage in a WLY motif. Moreover, constitutional isomers crosslinked by C─C and C─O linkages were formed from YYY or YWY motifs. ABSTRACT Cytochrome P450s catalyze an array of reactions including crosslinking of aromatic side
Chandrashekhar Padhi +6 more
wiley +2 more sources
Frontiers in Clinical Diabetes and HealthcareIntroductionDiabetic kidney disease (DKD), a devastating microvascular complication of diabetes mellitus, arises from intricate crosstalk between metabolic disorders and immune dysregulation.
Yuting Li +9 more
doaj +1 more source
Genetic Variation in ADHD‐Related Risk Genes in an Indigenous Population of the Amazon
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Attention‐Deficit/Hyperactivity Disorder (ADHD) is a highly heritable neurodevelopmental disorder; however, its genetic architecture remains poorly explored in Indigenous populations. This study aimed to analyze and characterize genetic variation in 11 genes (ADGRL3, CDH8, DCC, DUSP6, FOXP1, FOXP2, MEF2C, PCDH7, SEMA6D, SORCS3, and ST3GAL3 ...
Hirlesson Paixão de Matos +11 more
wiley +1 more source
Angewandte Chemie, EarlyView.KO‐NH2 is a synthetic metallophore that preferentially binds Ga3+ over Fe3+ and is recognized by bacterial transporters. Photocrosslinking identifies CirA and Fiu as key uptake proteins in E. coli. KO‐NH2 enables targeted imaging and treatment of E. coli soft tissue infections.
Phuong Nguyen Tran +5 more
wiley +2 more sources
The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle +3 more
wiley +1 more source
Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa +3 more
wiley +1 more source
Lateral Extra-articular Tenodesis Internet Search Trends Correlate to the Quantity of Publications From 2020 to 2024. [PDF]
Arthrosc Sports Med RehabilPurpose To investigate public internet search trends for lateral extra‐articular tenodesis (LET) and examine their potential relation to the peer‐reviewed literature on LET between 2020 and 2024. Methods Search term data from February 2020 to December 2024 was collected via the Google Trends feature. Worldwide weekly relative search volumes (RSVs) were
Lustig M +4 more
europepmc +2 more sources
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 +5 more
wiley +1 more source