Results 61 to 70 of about 1,722 (231)

Discovery of a small molecule probe that post-translationally stabilizes the survival motor neuron protein for the treatment of spinal muscular atrophy. [PDF]

, 2017
Spinal muscular atrophy (SMA) is the leading genetic cause of infant death. We previously developed a high-throughput assay that employs an SMN2-luciferase reporter allowing identification of compounds that act transcriptionally, enhance exon recognition,
Androphy, Elliot J., Boaler, Patrick J., Burnett, Barrington G., Calder, Alyssa N., Cherry, Jonathan J., Choi, Sungwoon, Cuny, Gregory D., Fritsche, Melanie, Glicksman, Marcie A., Hodgetts, Kevin J., Kern, Nicholas L., Li, Hongxia, Lorson, Christian L., Lusic, Hrvoje, Quist, Kevin M., Rietz, Anne, Xing, Xuechao   +16 more
core   +2 more sources

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P [PDF]

, 2017
In 1965, an adult-onset, autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy was described in a large, multi-generation kindred and named ‘scapuloperoneal syndrome type Kaeser' (OMIM #181400).
Born, C., Bulst, S., Fischer, D., Frey, J. R., Huebner, A., Klutzny, U., Krause, K. H., Kress, W., Lochmüller, H., Reilich, P., Schoser, B. G., Schröder, R., Vorgerd, M., Walter, M. C.   +13 more
core  

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients [PDF]

, 2017
Mutations in the filamin C gene (FLNC) cause a myofibrillar myopathy (MFM), morphologically characterized by focal myofibrillar destruction and abnormal accumulation of several proteins within skeletal muscle fibres.
Brodherr, Turgut, Bruchertseifer, Vera, Eger, Katharina, Fischer, Dirk, Fürst, Dieter O., Germing, Alfried, Hellenbroich, Yorck, Heyer, Christoph M., Huebner, Angela, Ketelsen, Uwe-Peter, Kirschner, Janbernd, Kley, Rudolf A., Lochmüller, Hanns, Müller, Klaus, Peters, Sören A., Reum, Conny, Schröder, Rolf, Tolksdorf, Karen, van der Ven, Peter F. M., Vorgerd, Matthias, Walter, Maggie C.   +20 more
core  

Study of survival of motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients [PDF]

, 2005
In view of the paucity of deletion studies of survival of motor neuron (SMN) and neuronal apoptosis inhibitor protein (NAIP) genes in Indian SMA patients, this study has been undertaken to determine the status of SMN1, SMN2 and NAIP gene deletions in ...
Kalita, J., Kesari, A., Mishra, V. N., Misra, U. K., Mittal, B., Patil, S. J., Phadke, S. R., Pradhan, S.   +7 more
core   +1 more source

Pediatric spinal ependymomas: Long‐term surgical outcomes in a cohort of 61 cases

Pediatric Investigation, EarlyView.
Spinal ependymomas are rare in children, with limited long‐term outcome data. In this retrospective study of 61 pediatric patients undergoing surgical resection, gross total resection was achieved in 62.3% and was associated with favorable functional improvement. Recurrence was observed in 31.1% of cases.
Liang Zhang, Xingyu Liu, Bo Han, Wenqing Jia   +3 more
wiley   +1 more source

The Relationship between Osteogenesis Imperfecta and Spinal Muscular Atrophy [PDF]

, 2011
ObjectiveA 4-month-old female with osteogenesis imperfecta (OI) type II was admitted in PICU of our center due to severe respiratory distress and fever with a diagnosis of severe pneumonia, and mechanical ventilation was initiated.
Fahimzad, Alireza, Karimi, Abdollah, Soltani, Babak, Talebian, Mahshid   +3 more
core   +2 more sources

Evaluating Thiram‐Induced Embryotoxicity Using Integrated In Silico, In Vitro, and Transcriptomic Approaches

Environmental Toxicology, EarlyView.
ABSTRACT Long‐term exposure to low‐dose food contact materials (FCMs) has raised concerns regarding developmental toxicity. In the present study, we prioritized FCMs with potential developmental toxicity using a weight‐of‐evidence computational model, which predicted 127 chemicals to be of high concern.
Chia‐Chi Ho, Chun‐Wei Tung, B. Linju Yen, Chen‐Yi Weng, Ju‐Hsin Hsu, Ming‐Hsien Tsai, Salim Arrokhman, Pinpin Lin   +7 more
wiley   +1 more source