Results 151 to 160 of about 145,125 (343)

Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum

Case Reports in Pediatrics, 2018
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality.
Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins   +4 more
doaj   +1 more source

A quality improvement study on breastfeeding initiation rate within 1 hour of life in inborn neonates in a tertiary care centre

, 2020
C. Renuka Devi, A. Nalini, N. S. Raghupathy   +2 more
openalex   +2 more sources

Injectable and In Situ Hydration‐Reinforced Hybrid Bone Cements for Accelerated Bone Regeneration

Advanced Science, EarlyView.
To enable minimally invasive bone defect repair, an injectable and hydration‐reinforced bone cement (L‐PEGS/CPC) is designed through biomimetic reconstruction. The hydrophilic L‐PEGS organic phase provides abundant nucleation sites, synergizing with its porous architecture to accelerate CPC hydration, thereby endowing the composite with exceptional ...
Xing Chen, Yifan Ma, Lingfei Zhao, Lingbin Che, Dianwen Song, Zihan Wu, Changsheng Liu, Yuan Yuan   +7 more
wiley   +1 more source

Clinical and genetic characteristics of boys with congenital hypogonadotropic hypogonadism: a single-center experience

BMC Pediatrics
Context Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by deficient secretion or action of gonadotropin-releasing hormone. While its characteristics are well-documented in adults, data from prepubertal patients remain limited ...
Dongxia Fu, Yongxing Chen, Xue Wu, Huizhen Wang, Jing Gao, Haiyan Wei   +5 more
doaj   +1 more source

Autopolyploidization‐Induced Chromatin Remodeling Regulates Leaf Size Variation in Brassica rapa

Advanced Science, EarlyView.
This study demonstrates that monoploid, diploid, and autotetraploid Brassica rapa lines derived from the same genome exhibit distinct leaf morphology. Ploidy changes remodel chromatin accessibility and histone modifications to regulate gene expression, while key transcription factors BrGRF13 and BrARF11 control leaf size and polarity, driving ...
Haoyuan Dong, Yanhong Liu, Yuanming Liu, Shuxin Xuan, Huanhuan Chen, Lai Wei, Guibao Zhang, Hongcui Pei, Zilong Dai, Yanhua Wang, Jinzhu Qiao, Shuangxia Luo, Xueping Chen, Yiguo Hong, Jianjun Zhao, Shuxing Shen, Zefu Lu, Aixia Gu   +17 more
wiley   +1 more source

Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism [PDF]

, 2023
Nina N. Stolwijk, Annet M. Bosch, Natalja Bouwhuis, Johannes Häberle, Clara van Karnebeek, Francjan J. van Spronsen, Mirjam Langeveld, Carla E. M. Hollak   +7 more
openalex   +1 more source

Connexin 26 Functions as a Direct Transcriptional Regulator During the Cochlea Development

Advanced Science, EarlyView.
Connexin26 can not only form intercellular channels that mediate rapid communication on the cell membrane, but also enter the nucleus as a transcription factor to directly regulate the transcription of nuclear genes. In the developing cochlea, Cx26 can control the maturation of the molecular scissor ADAM10 by regulating the transcription of TspanC8 ...
Xiaozhou Liu, Le Xie, Yuan Jin, Sen Chen, Xinyu Shi, Yanjun Zong, Zhengdong Zhao, Wei‐Jia Kong, Yu Sun   +8 more
wiley   +1 more source

Immunogenicity of Pfizer-BioNTech COVID-19 vaccine in patients with inborn errors of immunity

Journal of Allergy and Clinical Immunology, 2021
D. Hagin, Tal Freund, M. Navon, T. Halperin, Dikla Adir, Rotem Marom, Inbar Levi, Shira Benor, Y. Alcalay, N. Freund   +9 more
semanticscholar   +1 more source

Pre‐Existing Th1 Immunity Outperforms Age in Predicting Antibody Responses to SARS‐CoV‐2 Inactivated Vaccines

Advanced Science, EarlyView.
Challenging the focus on age, this study finds pre‐existing T helper 1 cells are the key biomarker for predicting antibody response to SARS‐CoV‐2 inactivated vaccines. In both mice and humans, high responders exhibited elevated baseline T helper 1 cells, which correlated with robust humoral immunity, offering crucial guidance for improving vaccine ...
Chanyuan Ye, Xiaoli Zhang, Lingfeng Qiu, Jia Ji, Jueqing Gu, Hongyu Jia, Yingfeng Lu, Jiyang Chen, Zelu Meng, Jiangshan Lian, Hangping Yao, Xun Zeng, Yida Yang   +12 more
wiley   +1 more source

ARE LEFT HANDED SURGEONS LEFT OUT? [PDF]

, 2012
Being a left-handed surgeon, more specifically a left-handed ENT surgeon, presents a unique pattern of difficulties.This article is an overview of left-handedness and a personal account of the specific difficulties a left-handed ENT surgeon faces. 
Kothandaraman, SriKamkshi, Thiagarajan, Balasubramanian   +1 more
core   +1 more source