Results 61 to 70 of about 79,932 (302)
Genetic architecture of Parkinson’s disease subtypes – Review of the literature
Frontiers in Aging Neuroscience, 2022 The heterogeneity of Parkinson’s disease (PD) has been recognized since its description by James Parkinson over 200 years ago. The complexity of motor and non-motor PD manifestations has led to many attempts of PD subtyping with different prognostic ...
Jarosław Dulski +5 more
doaj +1 more source
TOPIC: MONOGENIC DIABETES MELLITUS
, 2017 Aim: The main aim of the review is to describe about monogenic diabetes mellitus Objective: Monogenic diabetes mellitus is more common in young people developing diabetes, it is important to be alert to the possibility of monogenic diabetes; hence we ...
Preethi Krishnan, Kannan
core +1 more source
Quaternionic G–Monogenic Mappings in Em [PDF]
, 2018 We consider a class of so-called quaternionic G-monogenic mappings associated with m-dimensional (m 2 f2; 3; 4g) partial differential equations and propose a description of all mappings from this class by using four analytic functions of complex ...
Shpakivskyi V. S., Kuzmenko T. S.
core +1 more source
Counting monogenic monoids and inverse monoids [PDF]
, 2023 In this short note, we show that the number of monogenic submonoids of the full transformation monoid of degree n for n > 0, equals the sum of the number of cyclic subgroups of the symmetric groups on 1 to n points.
Mitchell, J. D. +4 more
core +1 more source
Advanced Science, EarlyView.Combinations of small activating RNAs and small interfering RNAs were developed as personalized precision therapies that simultaneously activate tumor suppressors and silence oncogenes according to the molecular signatures of patient tumors. This combination strategy demonstrated superior anticancer efficacy, highlighting the promise of precision ...
Jing Wu +18 more
wiley +1 more source
CRISPR and Gene Augmentation Rescue Trabecular Meshwork Dysfunction in iPSC Models of Lowe Syndrome
Advanced Science, EarlyView.By modeling Lowe syndrome using patient‐derived iPSCs, this study establishes a human disease model that faithfully recapitulates OCRL deficiency‐associated ciliary and cytoskeletal defects. The model enables evaluation of both mutation‐agnostic DNA augmentation and CRISPR‐mediated mutation correction strategies, both of which restore OCRL function and
Siyu Chen +11 more
wiley +1 more source
Frontiers in ImmunologyIntroductionThis systematic review aims to evaluate the clinical effectiveness of tumor necrosis factor (TNF) inhibitors in treating monogenic hereditary recurrent fevers (HRFs) in children and adolescents.MethodsWe conducted a comprehensive literature ...
Rim Dhahri +21 more
doaj +1 more source
A Fourier-Borel transform for monogenic functionals [PDF]
, 2016 We discuss the Fourier-Borel transform for the dual of spaces of monogenic functions. This transform may be seen as a restriction of the classical Fourier-Borel transform for holomorphic functionals, and it transforms spaces of monogenic functionals into
SOMMEN, FRANCISCUS CATHARINA +3 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice +10 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger +28 more
wiley +1 more source