Results 61 to 70 of about 10,381 (234)

Smart Denture with Embedded Thin‐Film Temperature Sensors Patterned by Femtosecond Laser Pulse for Elderly Healthcare

open access: yesAdvanced Intelligent Systems, Volume 7, Issue 3, March 2025.
We demonstrate the direct‐laser patterning of a gold thin film on polymethyl methacrylate to fabricate a temperature sensor for dentures. The temperature sensor‐embedded smart dentures are evaluated in an oral environment, enabling in‐situ monitoring for elderly healthcare.
Han Ku Nam   +7 more
wiley   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim   +9 more
wiley   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates   +6 more
wiley   +1 more source

Investigation Into the Dynamics of the Cupula in the Vestibular Organ of Adult Zebrafish Using Metabolic Glycoengineering

open access: yesAngewandte Chemie, EarlyView.
The cupula is a membrane within the vestibular organ that senses rotatory accelerations of the head. Metabolic glycoengineering in combination with bioorthogonal labeling demonstrates that in adult zebrafish – being a model for the human inner ear – this membrane is constantly renewed.
Hans Scherer   +4 more
wiley   +2 more sources

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss   +8 more
wiley   +1 more source

Regional-specific endodermal signals direct neural crest cells to form the three middle ear ossicles [PDF]

open access: bronze, 2019
Harinarayana Ankamreddy   +6 more
openalex   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani   +17 more
wiley   +1 more source

Investigation of acquired hearing loss in dopamine beta hydroxylase (DBH)-mutant mice [PDF]

open access: yes, 2011
Thesis (S.M.)--Harvard-MIT Division of Health Sciences and Technology, 2011.Cataloged from PDF version of thesis.Includes bibliographical references (p. 25).The influence of middle-ear disease on hearing in mice is not well understood.
Lee, Suh-Kyung
core  

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