Results 71 to 80 of about 4,716 (190)

Miscellanea. Könyvismertetés [PDF]

, 2015
Könyvismertetés. J. R.Nunley, E. V. Lerma (Eds.): Dermatological manifestations of kidney disease Springer-Verlag New York, 2015 267 oldal ISBN 978-1-4939-2394-
Schneider, Imre
core   +1 more source

Mettl3‐Mediated m6A Modification Represents a Novel Therapeutic Target for FSGS

Advanced Science, Volume 13, Issue 10, 18 February 2026.
This study explores the roles of Mettl3‐induced N6‐methyladenosine (m6A) modifications in Focal segmental glomerulosclerosis (FSGS). The findings reveal that inhibition of Mettl3 results in podocyte injury by modulating the TJP1CDC42 pathway. Moreover, Administration of N6‐methyladenosine attenuates the FSGS phenotype in WT mice induced by Adriamycin ...
Fubin Zhu, Hongzhi Li, Xiang Li, Chunxiu Du, Ting Wang, Xuling Zhou, Xiaobei Xie, Yunxia Shao, Yingzhi Huang, Yanling Hu, Xinxin Guo, Bin Zhu, Shanshan Yu, Xiaoyan Zhang, Binghai Zhao   +14 more
wiley   +1 more source

Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients [PDF]

The American Journal of Human Genetics, 1998
Nail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To determine whether specific LMX1B mutations are associated with different aspects of the NPS phenotype, we screened a cohort of 41 ...
McIntosh, Iain, Dreyer, Sandra D., Clough, Mark V., Dunston, Jennifer A., Eyaid, Wafa'a, Roig, Carmen M., Montgomery, Tara, Ala-Mello, Sirpa, Kaitila, Ilkka, Winterpacht, Andreas, Zabel, Bernhard, Frydman, Moshe, Cole, William G., Francomano, Clair A., Lee, Brendan   +14 more
openaire   +2 more sources

A transcription factor network specifying inhibitory versus excitatory neurons in the dorsal spinal cord [PDF]

, 2014
The proper balance of excitatory and inhibitory neurons is crucial for normal processing of somatosensory information in the dorsal spinal cord. Two neural basic helix-loop-helix transcription factors (TFs), Ascl1 and Ptf1a, have contrasting functions in
Borromeo, M. D., Castro, D. S., Chang, J. C., Guillemot, F., Johnson, J. E., Meredith, D. M., Tung, K.-C.   +6 more
core   +2 more sources

Polydopamine‐Based Antioxidant Countermeasures Against Spaceflight‐Induced Neurodegeneration

Small Science, Volume 6, Issue 1, January 2026.
Polydopamine nanoparticles (PDNPs) protect neuron‐like cells from microgravity‐ and cosmic radiation‐induced oxidative stress. Through in‐flight and ground‐based experiments, it has been shown that PDNPs preserve neuronal and mitochondrial function, markedly mitigating transcriptional dysregulation caused by spaceflight.
Alessio Carmignani, Attilio Marino, Matteo Battaglini, Melike Belenli Gümüş, Elisa Carrubba, Michele Balsamo, Giovanni Valentini, Gabriele Mascetti, Marco Vukich, Giada Graziana Genchi, Gianni Ciofani   +10 more
wiley   +1 more source

The zebrafish eye—a paradigm for investigating human ocular genetics [PDF]

, 2016
Although human epidemiological and genetic studies are essential to elucidate the aetiology of normal and aberrant ocular development, animal models have provided us with an understanding of the pathogenesis of multiple developmental ocular malformations.
Moosajee, M, Richardson, R, Tracey-White, D, Webster, A   +3 more
core   +1 more source

The Role of Lmx1a and Lmx1b in Regulating Mesencephalon Development and Dopamine Neuron Specification [PDF]

, 2010
One of the most challenging questions in developmental biology is how neurons are specified, acquire their distinct characteristics and find their correct innervations to form functional circuits.
Deng, Qiaolin
core  

Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

BMC Nephrology, 2020
Background Genetic changes in the LIM homeobox transcription factor 1 beta (LMX1B) have been associated with focal segmental glomerulosclerosis (FSGS) without the extra-renal or ultrastructural manifestations of Nail-patella syndrome (NPS) known as Nail ...
Filippo Pinto e Vairo, Pavel N. Pichurin, Fernando C. Fervenza, Samih H. Nasr, Kevin Mills, Christopher T. Schmitz, Eric W. Klee, Sandra M. Herrmann   +7 more
doaj   +1 more source

Genetics of Common Obesity in Children and Adolescents

Annals of the New York Academy of Sciences, Volume 1553, Issue 1, Page 34-49, November 2025.
Abstract Childhood obesity is a multifactorial public health problem worldwide. Genetic variation influences the predisposition to develop obesity at early stages of life. Childhood obesity may be classified as syndromic, monogenic, or polygenic depending on the genetic component.
Guadalupe León‐Reyes, Francisco J. López Alavez, Maria Elizabeth Tejero   +2 more
wiley   +1 more source

Identification and characterization of novel glomerulus-associated genes and proteins [PDF]

, 2010
The kidney is responsible for sieving the circulating blood to eliminate water-soluble waste products and potentially toxic substances from the body. The filtration step occurs in specialized filtration units called glomeruli.
Xiao, Zhijie
core