Results 221 to 230 of about 54,834 (268)

ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome

Developmental Medicine &Child Neurology, EarlyView.
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16446 Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus ...
Pauline Planté‐Bordeneuve, Claire‐Marine Bérat, Sylvain Hanein, Cyril Gitiaux, ATAD3 Study Group, Julie Steffann, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia, Brian Sperelakis‐Beedham, Zahra Assouline, Marie‐Thérèse Abi‐Warde, Rukhshona Abdullazoda, Agnès Guichet, Céline Bris, Aurélien Caux, Marlène Rio, Jérémy Bertrand, Pauline Gaignard, Alice Lepelley, Arnold Munnich, Manuel Schiff, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia   +26 more
wiley   +1 more source

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future consultations. Method This retrospective diagnostic cohort study compared the imaging (neurosonography and intrauterine magnetic resonance imaging) of fetuses ...
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source

Lennox–Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy‐insights from the Genoa International Workshop

Epilepsia, EarlyView.
Abstract Lennox–Gastaut syndrome (LGS) is one of the most severe, yet one of the most discussed, childhood‐onset developmental and epileptic encephalopathies (DEEs). Dissent among epileptologists on the definition and minimum set of electroclinical features derives from the high etiological heterogeneity within the syndrome, which could make its ...
Antonella Riva, Gianluca D'Onofrio, Elisabetta Amadori, Alexis Arzimanoglou, Stéphane Auvin, Irene Bagnasco, Paola Barabino, Valentina Biagioli, Isabella Brambilla, Giuliana Cangemi, Antonietta Coppola, Antonella De Lillo, Carlo Di Bonaventura, Giancarlo Di Gennaro, Edoardo Ferlazzo, Antonio Gil‐Nagel, Giuseppe Gobbi, Simona Lattanzi, Gerhard Kluger, Günter Krämer, Maria Margherita Mancardi, Carlo Minetti, Lino Nobili, Elisa Paravati, Milka Pringsheim, Erika Rebessi, Antonino Romeo, Angelo Russo, Emilio Russo, Katia Santoro, Susanne Schubert‐Bast, Laura Siri, Jo Sourbron, Maria Stella Vari, Alberto Verrotti, Flavio Villani, Maurizio Viri, Celina von Stülpnagel, Nelia Zamponi, Federico Zara, Pasquale Striano   +40 more
wiley   +1 more source

Type I interferon signalling and interferon‐responsive microglia in health and disease

The FEBS Journal, EarlyView.
Recent insights reveal that type I interferon (IFN‐I) signalling plays critical roles in the nervous system beyond antiviral defence. Dysregulated IFN‐I activity is increasingly linked to neurological dysfunction and neurodegeneration, with microglia as central mediators. This review explores the broader impact of IFN‐I signalling on the nervous system
Jose P. Lopez‐Atalaya, Aysha M. Bhojwani‐Cabrera   +1 more
wiley   +1 more source

CLEC18A interacts with sulfated glycosaminoglycans and controls clear cell renal cell carcinoma progression

The FEBS Journal, EarlyView.
CLEC18A is a previously poorly characterized C‐type lectin. We mapped the expression of CLEC18A to the proximal tubule of the kidney and found CLEC18A to interact with sulfated glycosaminoglycans on proteoglycans. Furthermore, we found that CLEC18A plays an important role in hindering the progression of clear cell renal cell carcinomas in humans and in
Gustav Jonsson, Maura Hofmann, Stefan Mereiter, Lauren Hartley‐Tassell, Masahiro Onji, Irma Sakic, Tiago Oliveira, David Hoffmann, Maria Novatchkova, Alexander Schleiffer, Josef M. Penninger   +10 more
wiley   +1 more source

Molecular profile of atypical Leydig cell tumours

Histopathology, EarlyView.
Copy number variations by themselves are not sufficient to discriminate between benign and potential malignant Leydig cell tumours (LCTs). Genomic instability was only detected in malignant and atypical cases, and not in any benign tumours. Currently, the presence of metastasis remains the only malignant criterion for LCTs.
Muhammad F.K. Choudhry, Diogo Caires, Yaser Gamallat, Asli Yilmaz, Fadi Brimo, Bob Argiropoulos, Tarek A. Bismar   +6 more
wiley   +1 more source

Reproductive outcomes in couples with recurrent pregnancy loss after embryonic chromosomal microarray analysis. [PDF]

J Assist Reprod Genet
Li Y, Zhou R, Xia Z, Meng L, Huang M, Hu P, Xu Z, Wang Y.   +7 more
europepmc   +1 more source

Long‐Term Biobanked Dental Pulp Stem Cells Retain Angiogenic Potential for Vascularised Tissue Engineering—Laboratory Investigation

International Endodontic Journal, EarlyView.
ABSTRACT Aim This study aimed to evaluate whether human dental pulp stem cells (DPSCs), after long‐term biobanking (7–8 years), retain their pro‐angiogenic properties and can be used to engineer vascularised tissues, addressing their potential for clinical translation in regenerative dentistry.
Shuntaro Yamada, Katerina Holomkova, Åshild Johansen, Masoumeh Jahani Kadousaraei, Niyaz Al‐Sharabi, Francesco Torelli, Pierfrancesco Pagella, Ana Angelova Volponi, Hiroshi Egusa, Inge Fristad, Kamal Mustafa   +10 more
wiley   +1 more source