Results 71 to 80 of about 23,214 (166)

Engineering Approaches to Modify Immunomodulatory Functions of Mesenchymal Stromal Cells (MSCs): Tissue Regeneration and Clinical Application

Advanced Science, EarlyView.
Mesenchymal stromal cells (MSCs) show promise for treating immune‐related disorders through immunomodulation and tissue regeneration. This review gives a brief overview of current clinical approval of MSC therapies. It also discussed how bioengineering, including genetic modification, biomaterial delivery, extracellular vesicles, and iPSC‐derived MSCs,
Sichen Yang, Kejia Li, Ning Wang, Zhen Li, Zhiyong Zhang, Rocky S. Tuan, Yangzi Jiang   +6 more
wiley   +1 more source

A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations [PDF]

Pediatric Nephrology, 2013
Female subjects with X-linked Alport syndrome have a single COL4A5 mutation, germ cell mosaicism in affected tissues and typically develop renal failure later or less often than male subjects. Women with two mutations are exceedingly rare, and usually have consanguineous parents or uniparental disomy.
Mohammad, M, Nanra, R, Colville, D, Trevillian, P, Wang, Y, Storey, H, Flinter, F, Savige, J   +7 more
openaire   +3 more sources

Detection of Pathogenic Intronic Variants for COL4A5 Gene in X‐Linked Alport Syndrome: Developing a Novel Methodology

Human Mutation
COL4A5 gene variants could result in the X‐linked Alport syndrome 1, dominant inheritance (XLAS1) (Online Mendelian Inheritance in Man (OMIM) #301050).
Yixiao Li, Rujin Tian, Yu Hei, Hao-Zheng Zhang, Yanan Yang, Yuqiang Lv, Wei-Ran Zhou, Qingwei Guo, Beibei Niu, Kaisheng Li, Dong Wang, Hongmei Xin, Kaihui Zhang   +12 more
semanticscholar   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

The Bile Acid Signaling Axis: Deciphering the Roles of FXR and TGR5 in Hepatic Steatosis, Fibrosis, and Cancer

Pharmacology Research &Perspectives, Volume 14, Issue 5, October 2026.
ABSTRACT Bile acids (BAs) serve not only as emulsifiers for lipid digestion but also as essential signaling molecules, governing various physiological and pathological processes through their interaction with the farnesoid X receptor (FXR) and the takeda G protein‐coupled receptor 5 (TGR5).
Jie Liu, Kui Sun, Hongmei Liu, Meiyang Zhu, Chunmeng Li, Yuqi He, Lin Qin   +6 more
wiley   +1 more source

Mitochondria as the Hub of Apoptosis: A Comprehensive Insight From Mitochondria to Interactions With Other Organelles

MedComm, Volume 7, Issue 9, September 2026.
Mitochondria is the hub of apoptosis in various diseases. The disruption of mitochondrial structure (including membrane rupture, cristae remodeling, and mitochondrial membrane lipid redistribution), the imbalance of mitochondrial dynamics (including fusion and fission, autophagy), the release, disruption, and mutation of mitochondria DNA, as well as ...
Rubin Tan, Jinming Zhao, Rong Wang, Yue Shi, Zaozao Chen, Yixuan Ma, Na Li, Wenqing Duan, Duo Lin, Chunxiang Zhang   +9 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS)

Stem Cell Research, 2017
Skin biopsies were obtained from two male patients with X-linked Alport syndrome (XLAS) with hemizygous COL4A5 mutations in exon 41 or exon 46. Dermal fibroblasts were extracted and reprogrammed by nucleofection with episomal plasmids carrying OCT3/4 ...
Bernd Kuebler, Begoña Aran, Laia Miquel-Serra, Yolanda Muñoz, Elisabet Ars, Gemma Bullich, Monica Furlano, Roser Torra, Merce Marti, Anna Veiga, Angel Raya   +10 more
doaj   +1 more source

Design of Nanocarriers for Kidney Targeted Delivery of Nucleic Acid Therapeutics

Macromolecular Bioscience, Volume 26, Issue 7, July 2026.
Nucleic acid therapeutics have been investigated to expand their applications to renal genetic disorders. This review summarizes key considerations in the design and fabrication of nanocarriers for the systemic delivery of nucleic acid therapeutics to the kidneys.
Jun Hyuk Lee, Junku Han, Sehwan Park, Hyejung Mok   +3 more
wiley   +1 more source

Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome [PDF]

Nephrology Dialysis Transplantation, 2006
Alport syndrome is an inherited disease resulting in kidney failure, hearing loss and ocular abnormalities. Alport syndrome is however often unrecognized, and the aim of this study was to characterize the associated but rarely described peripheral retinopathy and determine whether its demonstration was diagnostically helpful.Index cases were diagnosed ...
Shaw, Elizabeth A., Colville, Deb, Wang, Yan Yan, Zhang, Ke Wei, Dagher, Hayat, Fassett, Rob, Guymer, Robyn, Savige, Judy   +7 more
openaire   +5 more sources