Results 71 to 80 of about 2,525,206 (182)

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene

, 1996
The COL4A5 gene encodes the alpha 5 (type IV) collagen chain and is defective in X-linked Alport syndrome (AS). Here, we report the first systematic analysis of all 51 exons of COL4A5 gene in a series of 201 Italian AS patients.
RENIERI A., NERI T., Banfi G, Massella L, De Marchi, Mario, Zanelli P, L. Galli, F. Scolari, GALLI L., A. Sessa, Galli L, MASSELLA L., TURCO, Alberto, SESSA A., De Marchi M., SCOLARI, Francesco, T. Neri, PIGNATTI, Pierfranco, PIGNATTI P. F, BANFI G., TRYGGVASON K., P. Zanelli, GUSMANO R., L. Massella, RIZZONI G., Sessa A, ROSSETTI S., S. Rossetti, Savi M, BRUTTINI M., SCOLARI F, PIGNATTI P. F., M. Savi, J. Zhou, Pignatti PF, Renieri A, NERI, Tauro Maria, Heiskari N, BALLABIO, ANDREA, A. Renieri, M. De Marchi, N. Heiskari, Turco A, SAVI, Mario, Neri T, Ballabio A, K. Tryggvason, Zhou J, A. Ballabio, SCOLARI F., BALLABIO A., M. Bruttini, Rizzoni G, G. Banfi, TURCO A., HEISKARI N., Rossetti S, SAVI M., ZANELLI P., R. Gusmano, G. Rizzoni, Gusmano R, Bruttini M, ZHOU J., Tryggvason K   +64 more
core   +2 more sources

Analyzing three pedigrees in X-linked Alport syndrome with the presentation of nephrotic syndrome

Frontiers in Genetics
BackgroundAlport syndrome (AS) is a common cause of end-stage renal disease (ESRD) with various clinical symptoms and incomplete manifestation. Patients with AS and other renal disorders are often misdiagnosed. This study reported three X-linked dominant
Jian-Hui Zhang, Jian-Hui Zhang, Jie Liu, Jie Liu, Dan-Dan Ruan, Dan-Dan Ruan, Qian Chen, Qian Chen, Jie Yang, Jie Yang, Min Wu, Min Wu, Hong-Ping Yu, Hong-Ping Yu, Li-Sheng Liao, Li-Sheng Liao, Xiao-Ling Zheng, Xiao-Ling Zheng, Jie-Wei Luo, Li Zhang, Li Zhang   +20 more
doaj   +1 more source

Establishment of X-linked Alport syndrome model mice with a Col4a5 R471X mutation

Biochemistry and Biophysics Reports, 2019
Alport syndrome (AS) is an inherited disorder characterized by glomerular basement membrane (GBM) abnormality and development of chronic kidney disease at an early age.
Kentarou Hashikami, Makoto Asahina, Kandai Nozu, Kazumoto Iijima, Michio Nagata, Michiyasu Takeyama   +5 more
doaj   +1 more source

Type IV Collagen Controls the Axogenesis of Cerebellar Granule Cells by Regulating Basement Membrane Integrity in Zebrafish. [PDF]

PLoS Genetics, 2015
Granule cells (GCs) are the major glutamatergic neurons in the cerebellum, and GC axon formation is an initial step in establishing functional cerebellar circuits.
Miki Takeuchi, Shingo Yamaguchi, Shigenobu Yonemura, Kisa Kakiguchi, Yoshikatsu Sato, Tetsuya Higashiyama, Takashi Shimizu, Masahiko Hibi   +7 more
doaj   +1 more source

#2438 ADPKD and collagen genes (COL4A3, COL4A4, COL4A5)

Nephrology Dialysis Transplantation
Abstract Background and Aims Familial hematuria diseases are a heterogeneous group of monogenic conditions caused by mutations in one of the collagen IV genes: COL4A3 (2q36.3), COL4A4 (2q36.3), and COL4A5 (Xq22.3) that are expressed in the glomerular basement membranes (GBM) and are responsible for ...
Carlotta Caprara, Valentina Corradi, Matteo Rigato, Barbara Mancini, Nenzi Marzano, Omar Perbellini, Fiorella Gastaldon, Claudio Ronco, Monica Zanella   +8 more
openaire   +1 more source

Atypical Cadherin Fat2 is Involved in Axogenesis of Cerebellar Granule Cells in Zebrafish

Development, Growth &Differentiation, Volume 68, Issue 4-5, May‐June 2026.
Granule cells are the most abundant neurons in the vertebrate brain. The atypical cadherin gene fat2 is specifically expressed in cerebellar granule cells. In wild‐type zebrafish larvae, granule cells in the caudolateral cerebellum project their axons straight to Purkinje cells (PCs) and further extend them caudally to innervate crest cells (Crs ...
Jui Chun Wang, Miki Takeuchi, Ryuji Dohaku, Seok‐Hyung Kim, Lilianna Solnica‐Krezel, Takashi Shimizu, Masahiko Hibi   +6 more
wiley   +1 more source

Data_Sheet_1_Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5.PDF

, 2021
Alport syndrome-diffuse leiomyomatosis is a rare type of X-linked Alport syndrome resulting from contiguous deletions of 5′ exons of COL4A5 and COL4A6.
Xi Zhou (452148), Jingjing Wang (140791), Qing Ye (90197), Jianhua Mao (447450)   +3 more
core   +1 more source

Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome

Kidney International, 1993
We have screened 110 unrelated Alport syndrome kindreds for mutations in the exon 48 region of the COL4A5 collagen gene. Denaturing gradient gel electrophoresis (DGGE) of the PCR-amplified region of exon 48 revealed sequence variants in DNA from affected males and carriers of three unrelated kindreds.
Zhou, Jing, Gregory, Martin C., Hertz, Jens Michael, Barker, David F., Atkin, Curtis, Spencer, Edwin S., Tryggvason, Karl   +6 more
openaire   +2 more sources

Extracellular Matrix Origin Directs Morphogenesis and Gene Regulation in Bioengineered Human Skin

Advanced Healthcare Materials, Volume 15, Issue 15, 17 April 2026.
Fibroblast‐driven production of endogenous extracellular matrix is shown to be essential for guiding transcriptional programs and morphogenesis in biofabricated human skin equivalents. Constructs relying on native, cell‐produced ECM support physiological dermo‐epidermal junction formation and tissue architecture, whereas exogenous matrices promote ...
Francesco Galardo, Giorgia Imparato, Costantino Casale, Francesco Urciuolo, Luca Mannino, Antonio Federico, Dario Greco, Paolo Antonio Netti   +7 more
wiley   +1 more source