Results 71 to 80 of about 20,731 (178)

Proteolytic remodelling of the extracellular matrix by pericytes

The FEBS Journal, Volume 293, Issue 13, Page 3899-3953, July 2026.
Pericytes are specialised perivascular cells intimately connected with endothelial cells and essential for the maintenance of vascular beds. They contribute to the formation and remodelling of the extracellular matrix by actively secreting proteases and protease inhibitors.
Tina Burkhard, Ella Milne, Kate Qian, Paola Campagnolo, Salvatore Santamaria   +4 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, Volume 99, Issue 6, Page 1363-1378, June 2026.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Synthesis of a C‐2 Functionalized l‐Iduronic Acid Derivative as a Candidate Pharmacological Chaperone for MPS II (Hunter Syndrome)

Chemistry – An Asian Journal, Volume 21, Issue 11, 15 June 2026.
A C‐2 functionalized l‐iduronic acid derivative was designed and synthesized as a candidate pharmacological chaperone for iduronate‐2‐sulfatase (IDS), the enzyme involved in the lysosomal storage disease MPS II (Hunter syndrome). The synthesis overcomes significant synthetic challenges associated with manipulations of L‐ido scaffolds.
Vaibhavi Nagendra, Shifaza Mohamed, Nicholas W. See, Norbert Wimmer, Daniel Neumann, Paul J. Trim, Marten Snel, Aidan J. Brock, Jack K. Clegg, Neha S. Gandhi, Kim M. Hemsley, Adeline A. Lau, Vito Ferro   +12 more
wiley   +1 more source

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome [PDF]

, 2020
Fraser syndrome (FS) is a rare autosomal recessive multiple congenital malformation syndrome characterized by cryptophthalmos, cutaneous syndactyly, renal agenesis, ambiguous genitalia, and laryngotracheal anomalies.
Agnes Bloch‐Zupan, Midro, Alina, Basnayake, Sriyani, Stellzig-Eisenhauer, Angelika, Borys, Jan, Sriyani Basnayake, Stellzig‐Eisenhauer, Angelika, Güven, Yeliz, Bloch‐Zupan, Agnes, Martin Zenker, Alina Midro, Denny Schanze, Yeliz Güven, Hülya Kayserili, de Silva, Deepthi, Kunz, Felix, Jan Borys, Schanze, Denny, Zenker, Martin, Felix Kunz, Gueven, Yeliz, Silva, Deepthi, Deepthi de Silva, Kayserili, Hulya, Angelika Stellzig‐Eisenhauer, Bloch-Zupan, Agnes   +25 more
core   +1 more source

The spread of non‐native species

Biological Reviews, Volume 101, Issue 3, Page 1197-1234, June 2026.
ABSTRACT The global redistribution of species through human agency is one of the defining ecological signatures of the Anthropocene, with biological invasions reshaping biodiversity patterns, ecosystem processes and services, and species interactions globally.
Phillip J. Haubrock, Ali Serhan Tarkan, Irene Martín‐Forés, Stelios Katsanevakis, Ronaldo Sousa, Ismael Soto, Andy J. Green, Antonín Kouba, Teun Everts, Victoria Dominguez Almela, Nadège Belouard, Cang Hui, Jamie Bojko, Victor Deklerck, Margaux Boeraeve, Franz Essl, J. Robert Britton   +16 more
wiley   +1 more source

Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs

, 2005
Fraser syndrome is a recessive, multisystem disorder presenting with cryptophthalmos, syndactyly and renal defects and associated with loss-of-function mutations of the extracellular matrix protein FRAS1.
Hopkins, Jason, Elizabeth Bentley, Jackson, Ian, Taylor, Martin S., Antonio Perez Aytes, Smyth, Ian, Pitera, Jolanta E, Woolf, Adrian S.; id_orcid, Darling, Susan M., Peter J Scambler, Shalini Jadeja, McGregor, Lesley, Georges Chalepakis, Lesley McGregor, Susan M Darling, Ian Jackson, Woolf, Adrian S, Darling, Susan M, Jason Hopkins, Jolanta E Pitera, Van Haelst, Mieke, Ian Smyth, Perez Aytes, Antonio, Chalepakis, Georges, Philip, Nicole, Martin S Taylor, Adrian S Woolf, Pitera, Jolanta E., Aytes, Antonio Perez, Jadeja, Shalini, Bentley, Elizabeth, Scambler, Peter J, Fiona M Watt, Watt, Fiona M, Watt, Fiona M., Mieke van Haelst, Scambler, Peter J., Nicole Philip, Taylor, Martin S   +38 more
core   +1 more source

Fraser syndrome with bladder pseudoexstrophy

Saudi Medical Journal, 2001
We report a one year old girl with Fraser Syndrome (the association of craniofacial abnormalities, syndactaly and cryptophlamos) and multiple urogenital abnormalities including clitorimegaly, left renal agenesis and a unique urinary bladder exstrophy variant (psuedoexstrophy) with intact bladder which herniates through the lower abdominal wall defect.
openaire   +2 more sources

Prenatal diagnosis of bilateral anophthalmia by 3D “reverse face” view ultrasound and magnetic resonance imaging

Taiwanese Journal of Obstetrics & Gynecology, 2012
Objective: Primary anophthalmia is a rare congenital malformation that affects 0.6/10,000 liveborn infants. It is usually associated with central nervous system malformations, aneuploidies, cytomegalovirus infection and mental retardation and it can also
Edward Araujo, Júnior, Tatiana Emy Kawanami, Luciano Marcondes Machado Nardozza, Hérbene José Figuinha Milani, Patrícia Soares Oliveira, Antonio Fernandes Moron   +5 more
doaj   +1 more source

Bilateral orbito-palpebral cysts in a case of cryptophthalmos associated with Fraser syndrome

, 2008
A 15-month-old girl was referred for evaluation of congenital absence of both eyelids. Clinical evaluation revealed bilateral total cryptophthalmos and enlarged globes in addition to genitourinary anomalies, umbilical hernia, renal agenesis, and facial ...
MOCAN, MEHMET CEM, ÖZGEN MOCAN, BURÇE, Irkec, Murat   +2 more
core   +1 more source