Results 131 to 140 of about 63,582 (298)

Macrophage Dab1 Links Early Hypoxia to Adaptive Angiogenesis to Drive Peripheral Nerve Repair

Advanced Science, EarlyView.
Schematic diagram illustrating the Dab1‐linked hypoxia signaling pathway that accelerates angiogenesis and consequent nerve regeneration. Following PNI, a hypoxic microenvironment develops. Hypoxia induces macrophage Dab1 phosphorylation, resulting in NHE‐1 upregulation, HIF‐1α stabilization, and VEGF‐A expression. This cascade promotes angiogenesis in
Xiongyao Zhou, Fan Zhang, Jiangbo Wang, Huiyuan Wang, Zongqiang Wang, Qianqian Wang, Chuikai Meng, Jialu Sun, Han Wang, Weiye Li, Ziyi Zhao, Le Qi, Xiaosong Gu, Shusen Cui, Rangjuan Cao   +14 more
wiley   +1 more source

Liver transplantation for inborn errors of liver metabolism.

, 2006
Liver transplantation brings complete recovery from end-stage liver disease, and full correction of liver based inborn errors of ...
Efienne M. Sokal, Sokal, Etienne
core   +1 more source

Large Language Model‐Based Chatbots in Higher Education

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
The use of large language models (LLMs) in higher education can facilitate personalized learning experiences, advance asynchronized learning, and support instructors, students, and researchers across diverse fields. The development of regulations and guidelines that address ethical and legal issues is essential to ensure safe and responsible adaptation
Defne Yigci, Merve Eryilmaz, Ail K. Yetisen, Savas Tasoglu, Aydogan Ozcan   +4 more
wiley   +1 more source

Seeds of change: The impact of Ethiopia's direct seed marketing approach on smallholders' seed purchases and productivity

American Journal of Agricultural Economics, EarlyView.
Abstract While multiple factors explain low adoption rates of improved varieties by small‐scale farmers in sub‐Saharan Africa, a key supply‐side constraint is the limited availability of seed embodying new traits in the volume, quality, price, and timeliness required by farmers. This constraint is partly attributable to classical failures in the market
Dawit Mekonnen, Gashaw T. Abate, Seid Yimam, Rui Benfica, David J. Spielman, Frank Place   +5 more
wiley   +1 more source

ANALYTICAL METHODS DEVELOPMENT FOR THE DIAGNOSIS OF INBORN ERRORS OF METABOLISM [PDF]

, 2008
Veneziano, Maria
core   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Evaluation of the relationship between circulating nucleated red blood cells count and inborn infection in neonates [PDF]

, 1970
Objectives: to determine the relationship between the initial nucleated red blood cells (nRBC) count during the first 12 hours after birth and inborn infection in neonates.
Krajewski, Paweł, Pokrzywnicka, Małgorzata, Welfel, Ewa, Kwiatkowska, Maria, Kalinka, Jarosław   +4 more
core  

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source