Results 71 to 80 of about 2,676,573 (175)

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Deletion of a Long-Range Dlx5 Enhancer Disrupts Inner Ear Development in Mice.

, 2018
Distal enhancers are thought to play important roles in the spatiotemporal regulation of gene expression during embryonic development, but few predicted enhancer elements have been shown to affect transcription of their endogenous genes or to alter ...
Michael V Wiles, Gagnon, Leona H, Amy E Kiernan, Longo-Guess, Chantal M, Low, Benjamin E, Leona H Gagnon, Chantal M Longo-Guess, Wiles, Michael V, Benjamin E Low, Kiernan, Amy E, Tian, Cong, Kenneth R Johnson, Cong Tian, Johnson, Kenneth R   +13 more
core   +1 more source

A rare case report: multiple intrahepatic masses in a pediatric patient with citrin deficiency

Discover Oncology
Deficiency of citrin, the liver-type aspartate-glutamate carrier, arises from biallelic mutations of the gene SLC25A13. Although citrin deficiency (CD) is associated with higher risk of hepatocellular carcinoma (HCC) in adult patients, this association ...
Hui Lin, Hong Jiang, Qiang Chen, Xiang Pan, Mei Deng, Xiang-Ran Cai, Yuan-Zhi Lu, Yuan-Zong Song, Jun-Cheng Liu   +8 more
doaj   +1 more source

Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency with SLC25A13 Mutation Presenting Hepatic Steatosis and Prolonged Jaundice. A Rare Case Report

, 2021
Background: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a rare autosomal recessive disease. The incidence of citrin deficiency is estimated between 1/10,000 and 1/20,000 in Taiwan. Case report: This report describes a case of
Wen-Li Lu, Chung-Hsing Wang, An-Chyi Chen, I-Ping Chiang, Shu-Wei Hu, Shu-Fen Wu   +5 more
core   +1 more source

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population

Frontiers in Genetics, 2019
Expanded newborn screening for inborn errors of metabolism (IEMs) by tandem mass spectrometry (MS/MS) could simultaneously analyze more than 40 metabolites and identify about 50 kinds of IEMs.
Ting Wang, Jun Ma, Qin Zhang, Ang Gao, Qi Wang, Hong Li, Jingjing Xiang, Benjing Wang   +7 more
doaj   +1 more source

Increased ATP production and P‐glycoprotein activity underlie the marked changes in blood–brain barrier transport of drugs in a mouse model of amyotrophic lateral sclerosis

British Journal of Pharmacology, Volume 183, Issue 2, Page 280-295, January 2026.
Background and purpose Patients with amyotrophic lateral sclerosis (ALS) are prescribed many medications for symptomatic relief. However, how potential alterations to the blood–brain barrier (BBB) affect the brain exposure of drugs in ALS remains under‐investigated. Experimental approach We used high‐dimensional proteomic analysis, cellular metabolism,
Yijun Pan, Alanna G. Spiteri, Pranav Runwal, Jiaqi Sun, Dana S. Hutchinson, Yoshiteru Kagawa, Bradley J. Turner, Cheng Huang, Anup D. Shah, Ralf B. Schittenhelm, Joseph A. Nicolazzo   +10 more
wiley   +1 more source

Transcriptomic insights into amyotrophic lateral sclerosis (ALS): Differential gene expression analysis reveals novel biomarkers and dysregulated pathways

In Silico Research in Biomedicine
Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease characterized by the gradual deterioration of upper and lower motor neurons, leading to severe muscle weakness and, ultimately, respiratory failure.
Deboral Eshak, Mohanapriya Arumugam
doaj   +1 more source

The SLC25A13 ASVs detected by cDNA analysis in the patient C0054.

, 2013
In this table, all the maternally-inherited ASVs but M-11 harbored r.329_468del. The nucleotide numbering was based on SLC25A13 cDNA sequence (GenBank: NM_014251), with +1 indicating the A of the ATG-translation initiation codon.
Mei Deng (460870), Shun Soneda (460876), Feng-Ping Chen (460872), Xiao-Ling Long (460873), Takeyori Saheki (460880), Li Guo (171454), Keiko Kobayashi (28676), Yan-Li Ma (460871), Lock-Hock Ngu (460879), Sumito Dateki (460878), Akiko Nakatomi (460877), Yuan-Zong Song (460866), Wei-Xia Lin (460868), Xiang-Ling He (460874), Xin-Jing Zhao (460869), Zhan-Hui Zhang (460867), Yoshihide Sunada (460875)   +16 more
core   +1 more source

Low levels of citrin (SLC25A13) expression in adult mouse brain restricted to neuronal clusters [PDF]

, 2009
"This is the peer reviewed version of the following article: Journal of Neuroscience Research 88.5 (2010): 1009-1016, which has been published in final form at https://doi.org/10.1002/jnr.22283.
Contreras Balsa, Laura, Saheki, Takeyori, Satrustegui Gil Delgado, Jorgina, Kobayashi, Keiko, Urbieta, Almudena, Keiko Kobayashi, Jorgina Satrústegui, Almudena Urbieta, Takeyori Saheki, Laura Contreras   +9 more
core   +1 more source

206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China

Frontiers in Genetics
BackgroundInborn errors of metabolism (IEMs) are rare diseases caused by inherited defects in various biochemical pathways that strongly correlate with early neonatal mortality and stunting. Currently, no studies have reported on the incidence of IEMs of
Gang Xiao, Zonghui Feng, Chaochao Xu, Xuzhen Huang, Maosheng Chen, Min Zhao, Yanbin Li, Yang Gao, Shulin Wu, Yuyan Shen, Ying Peng   +10 more
doaj   +1 more source