Results 111 to 120 of about 1,981 (251)

Generation of Nasal Cell‐Derived Human Alveolar Organoids and Organoid‐Macrophage Assembloids for in Vitro Lung Modeling

open access: yesAdvanced Science, EarlyView.
This study demonstrates the generation of human alveolar organoids from nasal cells, which, when co‐cultured with monocyte‐derived macrophages, promotes maturation of both components and forms alveolar assembloids resembling native alveoli. These alveolar organoids and assembloids offer accessible, physiologically relevant in vitro systems for ...
Man Chun Chiu   +19 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu   +23 more
wiley   +1 more source

Management of complex orthodontic cases using aligners: A comparative study. [PDF]

open access: yesBioinformation
Hamid Syed MA   +6 more
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr   +7 more
wiley   +1 more source

Shifting Child Protection Assessments From a Deficit Focus to Assessments Informed by Strengths and Protective Factors: Translating Research Knowledge to Practice

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Child protection systems play a critical role in preventing and responding to child maltreatment, yet practices are often predominantly deficit focused. This paper presents a rapid literature review on the strengths, protective factors, and cultural considerations to inform child protection assessment.
Gabrielle R. Hunt   +4 more
wiley   +1 more source

Canine stress analysis of two clear aligner attachment designs: A finite element study. [PDF]

open access: yesBioinformation
Sarita Y   +5 more
europepmc   +1 more source

SDPR–STK38 axis controls the proliferation–differentiation balance in alveolar type II cells

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The present study identifies SDPR as a pivotal regulator orchestrating the balance between proliferation and differentiation in alveolar type II (AT2) cells. In SDPR+/+ cells, SDPR binds to and inhibits STK38 activity, thereby sustaining GSK‐3β signaling functionality to promote cyclin D1 degradation and maintain cell cycle homeostasis.
Jie Wang   +6 more
wiley   +1 more source

Examples of Systemic Solutions for Skill-Mix Issues-An Analysis of International Experiences with a Focus on Rural Areas. [PDF]

open access: yesHealthcare (Basel)
Łuczak J   +7 more
europepmc   +1 more source

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