Results 91 to 100 of about 15,088,934 (259)

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

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, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

A Blood‐Derived Double‐Network Hydrogel with Robust Wet Adhesion for Keratinized Mucosa Regeneration via Neutrophil Phenotype Reprogramming and Mechanophysical Niche Modulation

Advanced Science
Reconstruction of keratinized mucosa (KM) with sufficient dimensions is critical for long‐term periodontal and peri‐implant health. However, existing biomaterials struggle to recapitulate the complex biophysical and biochemical microenvironment of KM ...
Sicong Ren, Xinting Yang, Jingxia Chen, Yihan Wang, Jian Feng, Jing Zhou, Jiaxin Luo, Jingjie Zhai, Quan Lin, Yanmin Zhou   +9 more
doaj   +1 more source

IDB Newsletter: Vol. 7, no. 2, April 1969

, 1969
IDB Newsletter is a monthly publication of the Inter-American Development that reports on the activities of the Inter-American Development Bank and appears in English and Spanish ...
Inter-American Development Bank
core   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Challenging Inequalities: Our Early Childhood Development Sector Framework Document at a Glance

Investing in the first five years of life is essential for early childhood development (ECD) and contributes to increasing societal productivity, reducing poverty, and promoting equality.
Inter-American Development Bank
core   +1 more source

IDB Newsletter: Vol. 7, no. 3, July 1969

, 1969
IDB Newsletter is a monthly publication of the Inter-American Development that reports on the activities of the Inter-American Development Bank and appears in English and Spanish ...
Inter-American Development Bank
core   +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, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Advances in amino acid metabolism in bone remodeling and osteoporosis

Kouqiang hemian waike zazhi
Bone is a metabolically active organ that undergoes continuous bone remodeling throughout life to maintain bone homeostasis. Amino acids are the basic units of proteins, which play an important role in the regulation of material metabolism and ...
ZHANG Shuyu, YANG Zhenming, QIANG Jinbiao, SHI Ce   +3 more
doaj   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

Osteogenic mechanism of chlorogenic acid and its application in clinical practice

Frontiers in Pharmacology
Natural polyphenols may have a role in counteracting oxidative stress, which is associated with aging and several bone-related diseases. Chlorogenic acid (CGA) is a naturally occurring polyphenolic compound formed by the esterification of caffeic and ...
Jiayu Shen, Jiayu Shen, Shichen Zhang, Shichen Zhang, Jiayu Zhang, Jiayu Zhang, Xin Wei, Xin Wei, Zilin Wang, Zilin Wang, Bing Han, Bing Han   +11 more
doaj   +1 more source