Results 151 to 160 of about 416,899 (328)

Variation of tRNA modifications with and without intron dependency

Frontiers in Genetics
tRNAs have recently gained attention for their novel regulatory roles in translation and for their diverse functions beyond translation. One of the most remarkable aspects of tRNA biogenesis is the incorporation of various chemical modifications, ranging
Sachiko Hayashi
doaj   +1 more source

Combined analysis of the MspI and XbaI polymorphisms in intron 22 of the factor VIII gene for detection of hemophilia A in a Korean population

, 2012
S.H. Park, Nack‐Gyun Chung, M. R. Lee, Seong‐Keun Yoo, Yoonhwa Choi   +4 more
openalex   +1 more source

A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary nonsyndromic hearing loss (NSHL) is a prevalent entity associated with over 150 known causative genes, including LMX1A, which has fewer than 10 reported pathogenic variants. Here we present a novel missense variant in LMX1A in a family of European descent with hereditary hearing loss. Clinical and family histories were obtained, and
Ryan Chen, Dayna Morel Swols, Guney Bademci, Mustafa Tekin   +3 more
wiley   +1 more source

Myeloid p38 activation maintains macrophage–liver crosstalk and BAT thermogenesis through IL‐12–FGF21 axis

Hepatology, EarlyView., 2022
Physiological activation of myeloid p38 controls macrophage IL‐12 production and crosstalk to the liver by modulating hepatic FGF21, and subsequently, brown adipose tissue thermogenesis during obesity Abstract Obesity features excessive fat accumulation in several body tissues and induces a state of chronic low‐grade inflammation that contributes to ...
María Crespo, Ivana Nikolic, Alfonso Mora, Elena Rodríguez, Luis Leiva‐Vega, Aránzazu Pintor‐Chocano, Daniel Horrillo, Lourdes Hernández‐Cosido, Jorge L. Torres, Eva Novoa, Rubén Nogueiras, Gema Medina‐Gómez, Miguel Marcos, Magdalena Leiva, Guadalupe Sabio   +14 more
wiley   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

CD8+ T cell memory is sustained in mice by hepatic stellate cells

Hepatology, EarlyView., 2022
HSC role in memory CD8+ T cell maintenance. Abstract Background and Aims Long‐lasting immunological memory is the ultimate goal of vaccination. Homeostatic maintenance of memory CD8+ cytotoxic T cells (MemCD8TCs) is thought to be mediated by IL‐15/IL‐15R heterodimer (15HD)‐expressing myeloid cells.
Yi‐Ting Chen, Yu‐Chia Su, Yee‐Ern Or, Chin‐Fu Cheng, John T. Kung   +4 more
wiley   +1 more source

Double-stranded DNA viruses may serve as vectors for horizontal transfer of intron-generating transposons [PDF]

Landen Gozashti, Russell Corbett‐Detig
openalex   +1 more source

A novel risk variant block across introns 36–45 of CACNA1C for schizophrenia: a cohort-wise replication and cerebral region-wide validation study [PDF]

, 2023
Xiaoyun Guo, Shibin Wang, Xiandong Lin, Zuxing Wang, Yikai Dou, Yuping Cao, Yong Zhang, Xinqun Luo, Longli Kang, Ting Yu, Zhiren Wang, Yunlong Tan, Shenshen Gao, Hangxiao Zheng, Fen Zhao, Huifen Wang, Kesheng Wang, Fan Xie, Wenzhong Chen, Xinguang Luo   +19 more
openalex   +1 more source

Molecular Profiling of Genes Associated With Methylphenidate Pathway Therapy and Discovery of New Variants in Amazonian Amerindian Populations

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In Attention Deficit Hyperactivity Disorder (ADHD), methylphenidate is one of the most widely used drugs, in which patient response significantly impacts prognosis. This study aimed to characterize the molecular profile of 10 genes associated with methylphenidate therapy.
Aline Pasquini Santos, Tatiane Carinta de Souza, Kaio Evandro Cardoso Aguiar, Ana Caroline Alves da Costa, Natasha Monte, Juliana Carla Gomes Rodrigues, Giovanna Gilioli da Costa Nunes, Rita de Cássia Calderaro Coelho, Ândrea Ribeiro‐dos‐Santos, André Maurício Ribeiro dos Santos, Sandro José de Souza, Sidney Emanuel Batista dos Santos, Rommel Mario Rodriguez Burbano, Marianne Rodrigues Fernandes, Ney Pereira Carneiro dos Santos   +14 more
wiley   +1 more source

TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk

Hepatology, EarlyView., 2022
The systematic approach in elucidating the gain‐of‐function (GOF) roles of TP53 mutations in early liver carcinogenesis. Unique downstream targets of TP53 L3 mutations were identified from chormatin immunoprecipitation sequencing in HCC cell lines, followed by a series of validation assays to substantiate the exclusive transcriptional regulations ...
Yin Kau Lam, Jianqing Yu, Hao Huang, Xiaofan Ding, Alissa M. Wong, Howard H. Leung, Anthony W. Chan, Kelvin K. Ng, Mingjing Xu, Xin Wang, Nathalie Wong   +10 more
wiley   +1 more source