Results 81 to 90 of about 104,643 (290)

Organ‐Specific and Conserved Regulatory Logic Orchestrates Gene Expression in the Embryonic Mesothelium

Advanced Science, EarlyView.
Integrated multi‐omic profiling maps the gene‐regulatory landscape of the coelomic mesothelium across heart, lung, and pancreas. A cardiac‐restricted regulatory program is uncovered in which TBX20 activates heart mesothelial (epicardial) cis‐regulatory elements, while MAF emerges as a conserved regulator of mesothelial identity.
Quang Minh Dang, Nicola Smart, Andia Nicole Redpath, Joaquim Miguel Vieira   +3 more
wiley   +1 more source

Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals

Journal of Inborn Errors of Metabolism and Screening, 2015
Phenylketonuria (PKU) is an inherited metabolic disorder derived from a deficiency in the enzyme phenylalanine hydroxylase, which converts the amino acid phenylalanine (Phe) into tyrosine (Tyr).
Roseani Andrade MSc, Vaneisse Monteiro MSc, Cléber Cruz MSc, Carla Silva BS, Adriana Bastos MSc, Luiz Silva PhD   +5 more
doaj   +1 more source

Genetic Diagnosis and Discovery Enabled by Large Language Models

Advanced Science, EarlyView.
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu, Khaled Saab, Weida Liu, Zhouqing Fang, Zhuanfen Cheng, Svetolik Spasic, Maja Djurisic, Hiroaki Mohri, Wenlong Ren, Anil Palepu, Juraj Gottweis, Alan Karthikesalingam, Kavita Kulkarni, Annalisa Pawlosky, Devon Bonner, Elijah Kravets, Shruti Marwaha, Hector R. Mendez, Matthew T. Wheeler, Jonathan A. Bernstein, Undiagnosed Diseases Network, Cheng‐Yu Tsai, Chen‐Chi Wu, Konstantina M. Stankovic, Vivek Natarajan, Gary Peltz   +25 more
wiley   +1 more source

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

Orphanet Journal of Rare Diseases, 2018
Background Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency are long-chain fatty acid oxidation disorders with particularly high morbidity and mortality.
Amelie S. Lotz-Havla, Wulf Röschinger, Katharina Schiergens, Katharina Singer, Daniela Karall, Vassiliki Konstantopoulou, Saskia B. Wortmann, Esther M. Maier   +7 more
doaj   +1 more source

No-one is Unmusical:Elizabeth, Everyday Cheermongery, and Active Musical Citizenship [PDF]

, 2011
Everyday cheermongers spread positive emotion through social contagion. This capability is illustrated here through a portrait of Elizabeth, a ‘Suzuki method’ violin teacher in Edinburgh.
Thin, Neil
core   +2 more sources

Bone Organoids: A Novel Tool for Modeling and Managing Skeletal Disorders in Diabetes

Advanced Science, EarlyView.
This review synthesizes advances in bone organoid engineering and evaluates their potential to model diabetic bone fragility. Current in vitro and animal models do not fully recapitulate diabetes‐associated skeletal phenotypes. Cell‐based and scaffold‐based bone organoids are discussed as complementary approaches to reconstruct multicellular bone ...
Shuangzhe Lin, Karthikeyan Narayanan, Deepak Vashishth   +2 more
wiley   +1 more source

Mutations in the _SC4MOL_ gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay [PDF]

, 2008
Disorders of cholesterol biosynthesis have clinical manifestations involving skeleton, eyes, neurologic development, and skin. We describe a patient with congenital cataracts, developmental delay, microcephaly, and low serum cholesterol who developed ...
Abbe Vallejo, Gerard Vockley, Jacqueline Hoover, Jushua Michel, Laura Ferris, Lisa Kratz, Miao He, Michael Gibson, Richard Kelley   +8 more
core   +1 more source

Cellular Identity Crisis: RD3 Loss Fuels Plasticity and Immune Silence in Progressive Neuroblastoma

Advanced Science, EarlyView.
Researchers discovered that therapy‐induced loss of RD3 protein in neuroblastoma triggers a dangerous shift: cancer cells become more stem‐like, invasive, and resistant to treatment while evading immune detection. RD3 loss suppresses antigen presentation and boosts immune checkpoints, creating an immune‐silent environment.
Poorvi Subramanian, Sreenidhi Mohanvelu, Sheeja Aravindan, Afsana Parveen Jahir Hussain, Sivasubramani Narayanan, Sabir Salim, Loganayaki Periyasamy, Natarajan Aravindan   +7 more
wiley   +1 more source

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

Molecular Genetics and Metabolism Reports, 2016
The Congenital Disorders of Glycosylation (CDG) are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular ...
Wendy E. Heywood, Emily Bliss, Philippa Mills, Jale Yuzugulen, Gabriela Carreno, Peter T. Clayton, Francesco Muntoni, Viki C. Worthington, Silvia Torelli, Neil J. Sebire, Kevin Mills, Stephanie Grunewald   +11 more
doaj   +1 more source

Endothelial PDGF Signaling Dysregulation Impairs Testicular Interstitial Homeostasis in Diabetes

Advanced Science, EarlyView.
Testicular endothelial cells (TECs) function as central signaling hubs that coordinate interstitial homeostasis. Diabetes disrupts TEC‐derived PDGF signaling, silences the JUND‐MCL1 survival program in Leydig cells, and impairs peritubular function, leading to fibrosis and testosterone insufficiency.
Wenxiu Zhang, Kai Hong, Yanling Tang, Lina Cui, Xiaojian Lu, Jianxing Cheng, Yangyi Fang, Qiaoling Jiang, Ziyan Zhuang, Songzhan Gao, Hui Jiang, Qiang Liu, Jingtao Guo, Zhe Zhang, Xiaoyan Wang   +14 more
wiley   +1 more source