Results 171 to 180 of about 110,880 (279)

Psychological Impact of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: The Parental Experience. [PDF]

Int J Neonatal Screen
Gragnaniello V, Gaiga G, Cazzorla C, Porcù E, Gueraldi D, Puma A, Loro C, Doimo M, Salviati L, Burlina AB.   +9 more
europepmc   +1 more source

Depletion of the RNA‐Editing Enzyme ADAR1 Invigorates the Antitumor Immunity of NK Cells

Advanced Science, EarlyView.
ADAR1 is upregulated in NK cells from melanoma patients, impairing their function. Its loss enhances NK cell tumor infiltration and cytotoxicity in vitro and in vivo. Mechanistically, ADAR1 deficiency destabilizes CD38 mRNA to reduce its expression, thereby increasing NK cell mobility and killing, which nominates it as a therapeutic target for NK cell ...
Shuhan Chen, Di Lu, Rukang Liang, Weikeng Tan, Erming Zhao, Sihuang Wu, Xintong Li, Yulong Song, Miaojian Wan, Xiaoyuan Xie, Qi Zhang, Qiuli Liu   +11 more
wiley   +1 more source

A Nationwide Survey Investigating the Current Status of Genetic Counseling in Newborn Screening in Japan. [PDF]

Int J Neonatal Screen
Sakai E, Yamada T, Hamazaki T, Tajima G, Seto T.   +4 more
europepmc   +1 more source

Developing an Educational Program for Ultrasound Hip Screening during Newborn and Infant Home Visits: A Protocol Paper [PDF]

Kyoko Yoshioka‐Maeda, Chikako Honda, Hiroshige Matsumoto, Takeshi Kinjo, Kenta Fujiwara, Kiyoshi Aoki   +5 more
openalex   +1 more source

Osteoclast‐Derived SLIT3 Mediates Osteoarthritis Pain and Degenerative Changes

Advanced Science, EarlyView.
In TMJ‐OA, osteoclasts play a significant role in promoting the growth of sensory nerves at the osteochondral interface. In early OA, TRAP+ osteoclast‐derived SLIT3 induces sensory nerve growth into the condylar cartilage. This nerve growth facilitates the development of pain associated with OA.
Weiwei Zhu, Wenpin Qin, Jialu Gao, Yihan Guo, Xiaoxiao Han, Zhangyu Ma, Xiaokang Zhang, Jie He, Jing Liu, Bo Gao, Changjun Li, Lina Niu, Jianfei Yan, Kai Jiao   +13 more
wiley   +1 more source

Severe Undiagnosed Congenital Hypothyroidism Due to Missed Newborn Screening. [PDF]

JCEM Case Rep
Zhang M, Golchin A, Donner J, Lee MY, Seeley H, Meister KD.   +5 more
europepmc   +1 more source

NGS for NBS : Are we ready for « Next Generation » Newborn Screening ?

, 2017
François Boemer
openalex   +1 more source

A Combined Newborn Screening Approach for Hearing and Vision in Sub-Saharan Africa: First Pilot Study in Cameroon

Gaelle Vofo, Brice Nguedia Vofo, Winnie Anoumedem, Holgar Fung, Demosthene Afofou, Christabel Abanda, Serge Fankeng, Winnie Mbwentchou, Eugenie Mempouo, Sara Kingue, Francine Mveng, Evelyne Nguedia, Caren Mason, Evariste Nguimkeu, Frenkel Shahar, Sagit Stern Shavit, Michal Kaufmann, Jules Clément Nguedia Assob, Christian Andjock, Menachem Gross, Richard Njock   +20 more
openalex   +1 more source

A Public Health Perspective on the Importance of Plasma Phenylalanine and Tyrosine Determination in Relation to Newborn Screening and Monitoring of Treatment in Phenylketonuria

, 2016
Valerica Belengeanu
openalex   +2 more sources

SIRT5–RAC2 Axis Drives Monocyte‐to‐Macrophage Differentiation to Promote Inflammatory Injury in Premature Ovarian Insufficiency

Advanced Science, EarlyView.
SIRT5 desuccinylates and stabilizes RAC2, activating CSF1R‐dependent signaling to drive monocyte differentiation into M0 macrophages and their polarization toward pro‐inflammatory M1 phenotypes in CTX‐induced premature ovarian insufficiency. Inhibiting the SIRT5‐RAC2 axis attenuates inflammation, reduces granulosa cell apoptosis, and preserves ...
Wenjing TanTai, Yaqi Li, Shengnan Liu, Minjuan Wu, Zhixiao Liu, Junfeng Jiang, Jingjing Chen, Xiaoding Xu, Li Li, Chaoqun Li, Fang Zhao, Ye Liu, Haitao Ni, Tengfei Zhang, Mingjuan Xu, Chaofeng Han   +15 more
wiley   +1 more source