Results 81 to 90 of about 2,676,573 (175)

Native places of the 116 Chinese patients with citrin deficiency.

, 2013
By the end of February in 2013, 116 Chinese patients from 21 provinces, municipalities and autonomous regions in China were diagnosed by SLC25A13 gene analysis by our group.
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

Association of the CCR5 gene with juvenile idiopathic arthritis [PDF]

, 2010
The CC chemokine receptor 5 (CCR5) has been shown to be important in the recruitment of T-helper cells to the synovium, where they accumulate, drive the inflammatory process and the consequent synovitis and joint destruction.
Martin, P., BSPAR Study Group, Barton, A., UKRAG Consortium, Worthington, J., Gardner-Medwin, J. [CAPS and BSPAR Study Groups], Thomson, W., W Thomson, Flynn, E., A Hinks, E Flynn, J Packham, Packham, J., Hinks, A., S Eyre, J Worthington, Eyre, S.; id_orcid, Eyre, S., Barton, A.; id_orcid, P Martin, Childhood Arthritis Prospective Study (CAPS), Martin, P.; id_orcid, A Barton   +22 more
core   +1 more source

A Case of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) Confirmed by SLC25A13 Mutation

, 2014
Citrullinemia type 2 (citrin deficiency) is an autosomal recessive inborn error metabolism, caused by the SLC25A13 gene mutation. Citrin deficiency is associated with two clinical phenotype; neonatalonset type II citrullinemia (CTLN2), also known as ...
손, 영배, 이, 수연, 장, 주영, 박, 형두   +3 more
core   +1 more source

Novel Compound Heterozygote Mutations of theSLC25A13Gene in an Infant with Neonatal-onset Type II Citrullinemia Detected by Newborn Mass Screening

Journal of the Korean Society of Neonatology, 2011
Ho-Seop Lim, M.D., Ho Kim, M.D., Sung Shin Kim, M.D., Gu-Hwan Kim, M.D.*, Han-Wook Yoo, M.D.* and Young-Lim Shin, M.D.Department of Pediatrics, College of Medicine, Soonchunhyang University, Bucheon, KoreaMedical Genetics Clinic and Laboratory*, University of Ulsan College of Medicine, Asan Medical Center, Seoul ...
Ho-Seop Lim, Ho Kim, Sung Shin Kim, Gu-Hwan Kim, Han-Wook Yoo, Young-Lim Shin   +5 more
openaire   +1 more source

NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells

, 2023
Urea cycle enzymes and transporters collectively convert ammonia into urea in the liver. Aberrant overexpression of carbamylphosphate synthetase 1 (CPS1) and SLC25A13 (citrin) genes has been associated with faster proliferation of tumor cells due to ...
Michio Morizono, Nikita Guptan, Ljubica Caldovic, Dylon Alindogan, Melissa Owusu-Ansah   +4 more
core   +1 more source

Bilirubin metabolism-related genetic variants in neonatal hyperbilirubinemia: a multicenter case-control study in northern China

Frontiers in Pediatrics
Neonatal hyperbilirubinemia (NHB) is common in neonates, and genetic factors are important contributors to bilirubin metabolism. However, data on NHB-related genetic variants in northern China remain limited.
Sihan Sheng, Sihan Sheng, Ying Li, Lijuan Ma, Hesheng Chang, Yanmei Guan, Yanzhe Lei, Chunying Tan, Arigonggaowa, Hongfei Wen, Chen Kou, Yajuan Wang   +11 more
doaj   +1 more source

PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review

BMC Medical Genomics
Background Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive disorder. Riboflavin-responsive MADD (RR-MADD) represents a treatable subtype, though its molecular mechanisms are incompletely characterized.
Dong-Fang Lin, Huan Sheng, Qiang Qu, Ze-Tao Liao   +3 more
doaj   +1 more source

MicroRNA-2861 regulates the proliferation and apoptosis of human retinal vascular endothelial cells treated with high glucose by targeting NDUFB7

Heliyon
Objectives: Although anti-VEGF and retinal laser photocoagulation are two therapeutic modalities that have been used in the clinical treatment of diabetic retinopathy (DR), it is unknown how these modalities target vascular endothelial function in DR ...
Qiqin Shi, Qiangsheng Wang, Ke Mao, Zhuoran Liu, Ruobing Wang   +4 more
doaj   +1 more source

Figure S2 from CD71⁺ Population Enriched by HPV-E6 Protein Promotes Cancer Aggressiveness and Radioresistance in Cervical Cancer Cells

, 2019
Sequencing analysis was also performed for two predicted off-target genes (SLC25A13 and TECTB) in F99 and J76 cells.
Thomas Ho-Yin Leung (14871182), David Wai Chan (15080740), Annie Nga-Yin Cheung (15080746), Michelle Kwan-Yee Siu (15080737), Karen Kar-Loen Chan (15080743), Hextan Yuen-Sheung Ngan (15080749), Hermit Wai-Man Tang (15080734)   +6 more
core   +1 more source

Neonatal-onset citrin deficiency: long-term outcomes in four cases and identification of a novel variant

The Turkish Journal of Pediatrics
Background. Citrin deficiency (CD), caused by mutations in the SLC25A13 gene, is a rare autosomal recessive urea cycle disorder with variable clinical presentations depending on age.
Arzu Selamioğlu, Şebnem Kılıç, Ayça Dilruba Aslanger, Meryem Karaca, Mehmet Cihan Balcı, Zehra Oya Uyguner, Gülden Gökçay   +6 more
doaj   +1 more source