Results 111 to 120 of about 631,764 (332)

Viral‐Mediated Connexin 26 Expression Combined with Dexamethasone Rescues Hearing in a Conditional Gjb2 Null Mice Model

Advanced Science, EarlyView.
AAV2.7m8 serotype combined with the gfaABC1D promoter targets infection of supporting cells (SCs). AAV2.7m8‐gfaABC1D‐Gjb2 administration to mice results in excessive immune responses. The combination of AAV2.7m8‐gfaABC1D‐Gjb2 with dexamethasone (DEX) shows a synergistic effect and enhances the gene therapy effect in a conditional Cx26 null mice model ...
Xiaohui Wang, Li Zhang, Sen Chen, Le Xie, Yue Qiu, Chenyang Kong, Ge Yin, Weijia Kong, Yu Sun   +8 more
wiley   +1 more source

Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients

, 2023
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 284-288, January 2023.
Lucia Pia Bruno, Gabriella Doddato, Margherita Baldassarri, Caterina Lo Rizzo, Sara Resciniti, Mirella Bruttini, Lista Mirjam, Kristina Zguro, Simone Furini, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani   +11 more
wiley   +1 more source

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy   +47 more
wiley   +1 more source

Prevención de enfermedades genética en Las Tunas, nonestre de 2015

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016
Fundamento: la inclusión de pacientes en los programas de prevención de enfermedades genéticas facilita la toma de conductas oportunas con la participación de la familia, contribuyendo a mantener indicadores adecuados de salud genética en la población ...
Orlando Peña Mancebo, Enelis Reyes Reyes, Nora María Orive Rodríguez, Lisset del Carmen Romero Portelles, Adriana Figuera Castillo   +4 more
doaj  

Single Administration of AAV‐mAtp6v1b2 Gene Therapy Rescues Hearing and Vestibular Disorders Caused by Atp6v1b2‐Induced Lysosomal Dysfunction in Hair Cells

Advanced Science, EarlyView.
Wei et al. establish a hair cell‐specific conditional knockout mouse model (Atp6v1b2fl/fl;Atoh1Cre/+), and demonstrate the importance of Atp6v1b2 for hair cell through maintaining the survival of lysosomes. A single administration of AAV‐ie‐Eh3‐mAtp6v1b2 through scala media at P0‐P2 realizes function compensation and restores hearing and balance ...
Gege Wei, Shiwei Qiu, Xue Gao, Lu Zheng, Yijin Chen, Ying Ma, Haifeng Feng, Jinyuan Yang, Guojie Dong, Huiyi Nie, Weihao Zhao, Xiaoge Li, Guangqin Wang, Wei Xiong, Pu Dai, Yongyi Yuan   +15 more
wiley   +1 more source

Cornelia de Lange syndrome and cancer: An open question

, 2023
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 292-295, January 2023.
Maria M. Pallotta, Maddalena Di Nardo, Raoul C. M. Hennekam, Frank J. Kaiser, Ilaria Parenti, Juan Pié, Feliciano J. Ramos, Antonie D. Kline, Antonio Musio   +8 more
wiley   +1 more source

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023
Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow   +21 more
wiley   +1 more source

First patient in Serbia with biochemically and genetically diagnosed pyridoxine-dependent epilepsy [PDF]

Vojnosanitetski Pregled, 2017
Introduction. Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive inborn error of metabolism present with early-onset seizures resistant to common anticonvulsants.
Ješić Miloš M., Ješić Maja D., Buljugić Svetlana, Živanović Aleksandra   +3 more
doaj   +1 more source

Transcriptomic Profiling Unveils EDN3+ Meningeal Fibroblasts as Key Players in Sturge‐Weber Syndrome Pathogenesis

Advanced Science, EarlyView.
Sturge‐Weber syndrome (SWS) is characterized by leptomeningeal vascular malformations, leading to seizures and stroke. Analysis of 119 446 brain cells from SWS patients uncovered distinct cell heterogeneity and identified an EDN3⁺ meningeal fibroblast cluster, with WNT5A emerging as a potential key driver of SWS progression and a promising therapeutic ...
Daosheng Ai, Tianyue Ming, Xiaoli Li, Shu Wang, Zhanying Bi, Jinyi Zuo, Zizhang Cheng, Weijin Sun, Mingguo Xie, Fengzhi Li, Xiongfei Wang, Xueling Qi, Guoming Luan, Woo‐ping Ge, Yuguang Guan   +14 more
wiley   +1 more source

Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia [PDF]

, 2016
How to Cite This Article: Najafi R, Hashemipour M, Mostofizadeh N, Ghazavi MR, Nasiri J, Shahsanai A, Famori F, Najafi F, Moafi M. Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia. Iran J Child Neurol.
FAMORI, Fatemeh, GHAZAVI, Mohammadreza, HASHEMIPOUR, Mahin, MOAFI, Mohammad, MOSTOFIZADEH, Neda, NAJAFI, Fatemeh, NAJAFI, Reza, NASIRI, Jafar, SHAHSANAI, Armindokht   +8 more
core   +2 more sources