Results 91 to 100 of about 2,524,227 (174)

Clinical, neuroimaging, biochemical, and genetic features in six Chinese patients with Adrenomyeloneuropathy

BMC Neurology, 2019
Background Adrenoleukodystrophy is a rare neurogenetic disease, AMN is the most common adult phenotype, such patients in China have not gotten enough attention.
Jie Li, Hongfen Wang, Zizi He, Xiangqing Wang, Jing Tang, Dehui Huang   +5 more
doaj   +1 more source

Successful Pregnancy Following Preimplantation Genetic Diagnosis of Adrenoleukodystrophy by Detection of Mutation on the ABCD1 Gene

The Application of Clinical Genetics, 2021
Son Trinh The,1,* Sang Trieu Tien,2,* Tam Vu Van,3,4 Nhat Nguyen Ngoc,1 My Tran Ngoc Thao,5 Khoa Tran Van,2 Dinh Vu Nhat,6,7 Binh Do Nhu8,9 1Military Institute of Clinical Embryology and Histology, Vietnam Military Medical University, Hanoi ...
Trinh The S, Trieu Tien S, Vu Van T, Nguyen Ngoc N, Tran Ngoc Thao M, Tran Van K, Vu Nhat D, Do Nhu B   +7 more
doaj  

Identification of DNA methylation-driven genes in esophageal squamous cell carcinoma: a study based on The Cancer Genome Atlas

Cancer Cell International, 2019
Background Aberrant DNA methylations are significantly associated with esophageal squamous cell carcinoma (ESCC). In this study, we aimed to investigate the DNA methylation-driven genes in ESCC by integrative bioinformatics analysis.
Tong Lu, Di Chen, Yuanyong Wang, Xiao Sun, Shicheng Li, Shuncheng Miao, Yang Wo, Yanting Dong, Xiaoliang Leng, Wenxing Du, Wenjie Jiao   +10 more
doaj   +1 more source

SAHA treatment upregulates Abcd2 and Abcd3 levels in Abcd1-deficient U87 astrocytes and B12 oligodendrocytes.

, 2013
There was no change in Abcd1 protein levels (A-i and E-i) and mRNA expression (A-ii and E-ii) in Abcd1-deficient U87 astrocytes and B12 oligodendrocytes treated with SAHA. Abcd2 (B and F) and Abcd3 (C and G) protein levels (i) and mRNA expression (ii) in
Inderjit Singh (33771), Aurora Pujol (22834), Mauhamad Baarine (584660), Jaspreet Singh (533281), Mushfiquddin Khan (584659)   +4 more
core   +1 more source

Elovl1 mRNA levels in wild-type, Abcd1-, Abcd2-, and Abcd1/Abcd2 double-deficient mouse peritoneal macrophages.

, 2014
The Elovl1 mRNA copy numbers were determined by qRT-PCR in total RNA from mouse peritoneal macrophages of wild-type (WT), Abcd1-deficient (Abcd1 KO), Abcd2-deficient (Abcd2 KO) and Abcd1/Abcd2 double-deficient (DOKO) mice. The graphs indicate mean values
Christoph Wiesinger (634568), Till Voigtländer (634569), Johannes Berger (6439), Zahid Muneer (606786), Hauke B. Werner (176255), Sonja Forss-Petter (188101)   +5 more
core   +1 more source

Clinical, biochemical and genetic profiling of X-linked adrenoleukodystrophy in Egyptian pediatric patients: a hospital-based study

Egyptian Journal of Medical Human Genetics
Background X-linked adrenoleukodystrophy, the most common peroxisomal disorder, is caused by ABCD1 gene mutations. This genetic disorder is characterized by the defective degradation of very long-chain fatty acids.
Dina A. Mehaney, Laila A. Selim, Dina A. Ezzat, Mohamed Shehata, Zeinab S. Seleim, Abeer Atef El-Ashmawy, Cristiano Rizzo, Carlo Dioniasi-Vici, Doaa M. Abdou, Sarah EL-Sayegh   +9 more
doaj   +1 more source

Incidental diagnosis of primary adrenal insufficiency precipitated by positive ABCD1 gene mutation detected on cascade screening

This case presentation outlines the occurrence of primary adrenal insufficiency secondary to ATP binding cassette subfamily D member 1 (ABCD1) mutation in a man in his 40s following a genetic screening test performed after a diagnosis of X-linked ...
George, Antony Mosses, Chacko James, Jovito, Mukunda, Athira, Jacob, Rhea   +3 more
core   +1 more source

Secondary failure of lentiviral vector gene therapy in a cerebral adrenoleukodystrophy patient with an ABCD1 whole-gene deletion

Molecular Therapy
A 9-year-old boy with adrenoleukodystrophy due to ABCD1 whole-gene deletion was diagnosed with active cerebral adrenoleukodystrophy characterized by demyelination and gadolinium enhancement on brain MRI. He underwent hematopoietic cell transplant (HCT) with autologous CD34+ cells transduced with an ABCD1-expressing lentiviral vector (eli-cel ...
Troy C. Lund, Paul J. Orchard, David R. Nascene, Carina J. King, Jennifer Braun, Stuti Thakkar, Willa Durose, Ilya Shestopalov, Himal Thakar, Ashish O. Gupta   +9 more
openaire   +2 more sources

Brainstem dominant form of X‐linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review

Molecular Genetics & Genomic Medicine
Background X‐linked adrenoleukodystrophy (X‐ALD) is the most common peroxisomal disorder attributed to ABCD1 mutations. Case reports with predominant brainstem involvement are rare.
Yulai Kang, Lu Guo, Zhuo Min, Lei Zhang, Lili Zhang, Chunhua Tang   +5 more
doaj   +1 more source

CRISPR/Cas9-mediated knockout of Abcd1 and Abcd2 genes in BV-2 cells: novel microglial models for X-linked Adrenoleukodystrophy

, 2019
International audienceX-linked adrenoleukodystrophy (X-ALD), the most frequent peroxisomal disorder, is associated with mutation in the ABCD1 gene which encodes a peroxisomal ATP-binding cassette transporter for very long-chain fatty acids (VLCFA).
Leoni, V., Trompier, D., Savary, S., Hamon, Y., Lizard, G., Raas, Q., Caccia, C., Gondcaille, C., Menetrier, F.   +8 more
core   +1 more source