Results 31 to 40 of about 869,874 (249)

Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe

FEBS Open Bio, EarlyView.
Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley   +1 more source

Association of Adults With Congenital Heart Disease–Specific Care With Clinical Characteristics and Healthcare Use [PDF]

, 2021
Abigail Khan, Lidija McGrath, Katrina Ramsey, Anushree Agarwal, Craig S. Broberg   +4 more
openalex   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

TRIM4 is associated with neural tube defects based on genome-wide DNA methylation analysis

Clinical Epigenetics, 2019
Background Neural tube defects (NTDs) are complex abnormalities associated with gene-environment interactions. The underlying cause has not been determined. Methods Spinal cord tissues from cases with NTDs and healthy controls were collected. Methylation
Henan Zhang, Yi Guo, Hui Gu, Xiaowei Wei, Wei Ma, Dan Liu, Kun Yu, Wenting Luo, Ling Ma, Yusi Liu, Jia Xue, Jieting Huang, Yanfu Wang, Shanshan Jia, Naixuan Dong, Hongyan Wang, Zhengwei Yuan   +16 more
doaj   +1 more source

Pulse Oximetry Screening for Detecting Critical Congenital Heart Disease in Neonates [PDF]

, 2022
Deepshikha Jain, Manish Jain, Yashwant Lamture   +2 more
openalex   +1 more source

Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp)

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu, Leiyun Huang, Wan Zhu, Min Peng, Qiang Gong, Jing Qian   +5 more
wiley   +1 more source

Swenson-like pull-through for treatment of the rare association between Hirschsprung’s disease and anorectal malformation

BMC Pediatrics
Background Anorectal malformations and Hirschsprung’s disease are congenital conditions impacting the digestive system, with a particularly uncommon co-occurrence, estimated at 2–3% of all ARM cases.
Mohamed Abdelmalak, Mohamed Mansy, Hazem Khafaga, Yasmine Ghazaly, Reem Saeed, Nada Yakout, Saber Waheeb, Mostafa Zain   +7 more
doaj   +1 more source

Bile acid predicts congenital portosystemic venous shunt in patients with pulmonary arterial hypertension

European Journal of Medical Research, 2023
The etiology of pulmonary arterial hypertension (PAH) is complex, especially the investigation of rare pathogeny is difficult. Congenital portosystemic venous shunt (CPSS) is a rare congenital anomaly in which the portal blood completely or partially ...
Yunyan Li, Xiaoxian Deng, Hongmei Zhou, Xuan Zheng, Gangcheng Zhang, Qingfeng Xiong   +5 more
doaj   +1 more source

The Case of a 28‐Year‐Old Woman With Medically Refractory Focal Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present the case of a 28‐year‐old right‐handed woman with medically refractory focal epilepsy. Her seizure semiology and electroencephalography (EEG) indicated a seizure onset zone in the right central‐parietal area. However, both MRI and PET scans were unremarkable, showing no focal lesions or areas of altered metabolism.
Rishi Sharma, Ilo Leppik, Thomas Henry, Thaddeus Walczak, Sima Patel, Robert McGovern   +5 more
wiley   +1 more source

Perfusion techniques for an 800 g premature neonate undergoing Arterial Switch Procedure for Transposition of the Great Arteries★

The Journal of ExtraCorporeal Technology
Early cardiac surgery in neonates and infants with congenital heart disease has been performed since the middle to late years of the twentieth century.
Owens Richard, Loftin Madeline, Rosten Kellen, Fisher Douglas, Denison Blake, Gottlieb Erin, Fraser Charles   +6 more
doaj   +1 more source