Results 131 to 140 of about 204,351 (287)

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency [PDF]

, 2009
OBJECTIVE. Hypospadias is a frequent congenital anomaly but in most cases an underlying cause is not found. Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations are ...
Achermann, J.C., Akkurt, I., Biebermann, H., Cetindag, C., Grüters, A., Hiort, O., Köhler, B., Lin, L., Mazen, I., Rossi, R.   +9 more
core   +2 more sources

UPF1 silenced cellular model systems for screening of read-through agents active on β039 thalassemia point mutation

BMC Biotechnology, 2018
Background Nonsense mutations promote premature translational termination, introducing stop codons within the coding region of mRNAs and causing inherited diseases, including thalassemia.
Francesca Salvatori, Mariangela Pappadà, Giulia Breveglieri, Elisabetta D’Aversa, Alessia Finotti, Ilaria Lampronti, Roberto Gambari, Monica Borgatti   +7 more
doaj   +1 more source

Behavioral and epileptic phenotypes in a CHD2‐related developmental delay model

Epilepsia, EarlyView.
Abstract Objective Heterozygous loss‐of‐function mutations in the CHD2 gene, encoding chromodomain helicase DNA‐binding protein 2, are associated with severe childhood onset epilepsy, global developmental delay, and autistic features. Animal models that accurately recapitulate human phenotypes are crucial for understanding rare neurodevelopmental ...
Anat Mavashov, Shaked Turk, Yael Sarusi, Marina Brusel, Rotem Ben Tov Perry, Shir Quinn, Yael Almog, Karni Vilian, Mor Yam, Igor Ulitsky, Moran Rubinstein   +10 more
wiley   +1 more source

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf–Yang Syndrome and the Importance of Paternal Allele Confirmation

Journal of Clinical Laboratory Analysis, EarlyView.
This study reports a de novo MAGEL2 pathogenic variant in a patient with Schaaf–Yang syndrome, confirmed through methylation‐sensitive analysis. Combining genomic sequencing with methylation assays helps accurately determine the parental origin of MAGEL2 mutations.
Youn‐Ji Hong, Misun Yang, Hyeon Jeong Kwon, Jooyoung Cha, Ja‐Hyun Jang, Sung Eun Wang, Eun Sun Lee, Mi‐Ae Jang   +7 more
wiley   +1 more source

Translation initiation factor eIF3 promotes programmed stop codon readthrough. [PDF]

, 2015
Programmed stop codon readthrough is a post-transcription regulatory mechanism specifically increasing proteome diversity by creating a pool of C-terminally extended proteins.
Beznoskova, Petra, Jansen, Myrte E, Valasek, Leos S, von der Haar, Tobias, Wagner, Susan   +4 more
core   +1 more source

Establishment and rescue of fibroblast cell lines carrying a nonsense mutation of RB1 by CRISPR-based base editing

Scientific Reports
Pathogenic variants of the RB1 gene have commonly been found in many cancer types, including retinoblastoma. Nonsense mutations are the most common mutation type in retinoblastoma; however, few cell lines mimic nonsense mutations in the RB1 gene that are
Youngri Jung, Eunhee Seo, Soyeon Yang, Sangsu Bae, Jeong Hun Kim, Hyeon-ki Jang, Dong Hyun Jo   +6 more
doaj   +1 more source

AAV-delivered suppressor tRNA overcomes a nonsense mutation in mice

Nature, 2022
Jiaming Wang, Yue Zhang, Craig A Mendonca, O. Yukselen, Khaja Muneeruddin, Lingzhi Ren, Jialing Liang, Chendong Zhou, Jun Xie, Jia Li, Zhong Jiang, Alper Kucukural, Scott A Shaffer, Guangping Gao, Dan Wang   +14 more
semanticscholar   +1 more source

Infantile exocrine pancreatic insufficiency due to a homozygous SPINK1 pathogenic variant in two siblings: A case report

JPGN Reports, EarlyView.
Abstract Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman–Diamond syndrome. The SPINK1 gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue.
France Chalon, Angélique Lhomme, Marie Léonard, Laura Zambelli, Serpil Alkan, Corinne Fasquelle, Aimé Lumaka, Guillaume Debray, Vincent Bours, Julie Frère, Emeline Bequet   +10 more
wiley   +1 more source

PhyloCSF: a comparative genomics method to distinguish protein-coding and non-coding regions [PDF]

, 2010
As high-throughput transcriptome sequencing provides evidence for novel transcripts in many species, there is a renewed need for accurate methods to classify small genomic regions as protein-coding or non-coding.
Arvestad, Blanchette, Brent, Butler, Clark, Goldman, Guttman, Guttman, Holmes, I. Jungreis, Kellis, Lin, M. F. Lin, M. Kellis, Ota, Ozsolak, Stark, Whelan, Yang   +18 more
core   +4 more sources

Modeling Treatment Response for Lamin A/C Related Dilated Cardiomyopathy in Human Induced Pluripotent Stem Cells

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2017
BackgroundPrecision medicine is an emerging approach to disease treatment and prevention that takes into account individual variability in the environment, lifestyle, and genetic makeup of patients.
Yee‐Ki Lee, Yee‐Man Lau, Zhu‐Jun Cai, Wing‐Hon Lai, Lai‐Yung Wong, Hung‐Fat Tse, Kwong‐Man Ng, Chung‐Wah Siu   +7 more
doaj   +1 more source