Results 61 to 70 of about 36,753 (224)

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Novel lines of Pax6^-/- embryonic stem cells exhibit reduced neurogenic capacity without loss of viability

BMC Neuroscience, 2010
Background Embryonic stem (ES) cells can differentiate into all cell types and have been used extensively to study factors affecting neuronal differentiation.
Nowakowski Tomasz J, Molinek Michael, Quinn Jane C, Mason John O, Price David J   +4 more
doaj   +1 more source

Research progress in animal models of dry eye disease: Types, mechanisms, and application prospects

Animal Models and Experimental Medicine, EarlyView.
Pivotal multifactorial animal models for translational dry eye disease research. Abstract Dry eye disease (DED) is a prevalent and complex multifactorial ocular surface disorder, leading to significant visual discomfort and diminished quality of life.
Jinshen Liu, Jiaqi Chen, Zhonghui Li, Jiamin Zhou, Hui Zhang, Yujia Yu, Feng Cheng, Jie Bao, Chunhan Feng, Xiangqu Yu, Zhao Xia, Rao Ding, Xiang Li   +12 more
wiley   +1 more source

Embryonic cerebrospinal fluid pressure in fetal mice in utero: External factors pressurize the intraventricular space

Developmental Dynamics, EarlyView.
Abstract Background Previous experiments inducing leakage of embryonic cerebrospinal fluid (CSF) suggest the necessity of intraventricular CSF pressure (PCSF) for brain morphogenesis. Nevertheless, how embryonic PCSF occurs is unclear, especially in utero. Results Using a Landis water manometer, we measured PCSF in fetal mice isolated from the amniotic
Koichiro Tsujikawa, Reina Muramatsu, Takaki Miyata   +2 more
wiley   +1 more source

Genomic characterization of Gli-activator targets in sonic hedgehog-mediated neural patterning [PDF]

, 2007
Sonic hedgehog (Shh) acts as a morphogen to mediate the specification of distinct cell identities in the ventral neural tube through a Gli-mediated (Gli1-3) transcriptional network.
Davidson, Eric H., Giles, Shane, Ji, Hongkai, Longabaugh, William J. R., McCuine, Scott, McMahon, Andrew P., Tenzen, Toyoaki, Vokes, Steven A., Wong, Wing H., Zhong, Sheng   +9 more
core   +2 more sources

Somatic cell reprogramming for Parkinson's disease treatment

Ibrain, Volume 11, Issue 1, Page 59-73, Spring 2025.
The fundamental purpose of cell reprogramming to treat Parkinson's disease is to generate dopaminergic neurons (DAN) and do transplantation. There are two ways to accomplish this. One method is to induce cells into induced DA neurons (iDAN) directly or to induce cells into induced pluripotent stem cells and ultimately into iDAN in vitro. Another option
Xiaozhuo Li, Kevin Fang, Fengping Wang
wiley   +1 more source

Oncogenic PAX6 elicits CDK4/6 inhibitor resistance by epigenetically inactivating the LATS2‐Hippo signaling pathway

Clinical and Translational Medicine, 2021
Intrinsic resistance to CDK4/6 inhibitors hinders their clinical utility in cancer treatment. Furthermore, the predictive markers of CDK4/6 inhibitors in gastric cancer (GC) remain incompletely described.
Yi Zhang, Long‐Jun He, Lin‐Lin Huang, Sheng Yao, Nan Lin, Ping Li, Hui‐Wen Xu, Xi‐Wen Wu, Jian‐Liang Xu, Yi Lu, Yan‐Jie Li, Sen‐Lin Zhu   +11 more
doaj   +1 more source

Evaluation of commonly used ectoderm markers in iPSC trilineage differentiation. [PDF]

, 2019
Patient-derived induced pluripotent stem cells (iPSCs) have become a promising resource for exploring genetics of complex diseases, discovering new drugs, and advancing regenerative medicine.
Iacovino, Michelina, Iribarren, Carlos, Krauss, Ronald M, Kuang, Yu-Lin, Mattis, Aras N, Medina, Marisa W, Munoz, Antonio, Nalula, Gilbert, Sanchez, Gabriela, Sanghez, Valentina, Santostefano, Katherine E, Terada, Naohiro   +11 more
core  

Rieger syndrome is associated with PAX6 deletion [PDF]

Acta Ophthalmologica Scandinavica, 2001
ABSTRACT. Purpose: Rieger syndrome is an autosomal dominant condition defined by anterior segment dysgenesis in combination with facial, dental, skeletal and umbilical abnormalities. To date Rieger syndrome has been associated with mutations in the PITX2 gene at chromosome 4q25 and a second locus has been found at chromosome 13q14.Methods: We describe ...
R, Riise, K, Storhaug, K, Brøndum-Nielsen   +2 more
openaire   +2 more sources

METTL14 Ameliorates Mitochondrial Dysfunction and Autophagy in Lens Epithelial Cells of Diabetic Cataracts via m6A Modification of RPL3

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Diabetic cataracts are a leading cause of blindness, with lens epithelial cells (LECs) exhibiting mitochondrial dysfunction and autophagy inhibition under high glucose (HG) conditions. Methyltransferase‐like 14 (METTL14), an RNA methyltransferase, regulates N6‐methyladenosine (m6A) RNA modification; however, its role in modulating ...
Rui Li, Xue Wang, Wei Du, Qian Li, Hong‐Ping Cui   +4 more
wiley   +1 more source