Results 91 to 100 of about 52,839 (293)

Clinical and genetic findings in autism spectrum disorders analyzed using exome sequencing

Frontiers in Psychiatry
Autism spectrum disorder (ASD) refers to a group of complex neurodevelopmental disorders and is characterized by impaired reciprocal social interaction and communication, as well as the presence of restricted interests and stereotyped and repetitive ...
Ana Blázquez, Ana Blázquez, Ana Blázquez, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, María I. Alvarez-Mora, María I. Alvarez-Mora, María I. Alvarez-Mora, Rosa Calvo, Rosa Calvo, Rosa Calvo, Rosa Calvo   +12 more
doaj   +1 more source

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +1 more source

Maternal Exercise Rescues Embryonic Osteogenesis Impaired due to POLG Mutation Through a Potential Apelin‐ATF4 Axis

Advanced Science, EarlyView.
Maternal exercise (ME) increases apelin abundance across maternal and fetal tissues and is associated with improved fetal osteogenesis under POLG mutation‐induced mitochondrial dysfunction. Apelin‐APJ signaling is linked to enhanced mitochondrial function, Akt phosphorylation, and ATF4‐RUNX2 association, supporting coordinated fetal bone remodeling ...
Song Ah Chae, Ryan C. Riddle, Zhihua Jiang, Chaeyoung Shin, Min Du, Jun Seok Son   +5 more
wiley   +1 more source

Dysregulation of the MACF1‐Rab14/KIF16B‐FGFR Vesicular Trafficking Axis Skews MSC Lineage Commitment in Glucocorticoid‐Induced Osteoporosis

Advanced Science, EarlyView.
Under normal conditions, MACF1 interacts with Rab14 and facilitates KIF16B‐mediated FGFR vesicle trafficking along microtubules to the plasma membrane, thereby supporting BMSC differentiation. In contrast, chronic GC exposure suppresses MACF1 expression, disrupting this transport and causing intracellular FGFR retention, which blunts osteogenic ...
Peihong Su, Ye Tian, Fan Zhao, Jing Li, Suryaji Patil, Chunyu Zhu, Yujia Tian, Junrong Wang, Jiating Liu, Aoqi Xiang, Hua Guan, Lusha Zhang, Xiaochang Chen, Airong Qian, Qi Yu   +14 more
wiley   +1 more source

Dual‐line Genome‐scale CRISPR Screening Enables Robust Target Gene Discovery

Advanced Science, EarlyView.
A species‐optimized CRISPR platform integrates efficient piggyBac delivery, genome‐scale sgRNA libraries, and parallel screening in two independently engineered Bactrocera dorsalis Cas9 cell lines. Cross‐line consensus analysis filters line‐specific effects, enriches candidates with reproducible in vivo phenotypes, and reveals conserved, species ...
Ziniu Li, Jiao Qiao, Qiuyuan Zhang, Peipei Liu, Chenjun Zheng, Qi Zhou, Mengqi Ji, Zhihui Zhu, Xiaoxue Li, Hongyu Zhang   +9 more
wiley   +1 more source

A couple of the first cousins born with hypotonia and maternal polyhydramnios

Clinical Case Reports
Key Clinical Message Congenital myotonic dystrophy should be considered in hypotonic infants with polyhydramniotic mothers with a positive history of myotonia.
Mousa Ahmadpour‐kacho, Yadollah Zahed Pasha, Samira Pournajaf   +2 more
doaj   +1 more source

Loss of CYLD on Chromosome 16q Impairs Homologous Recombination and Genomic Stability Through TIRR Degradation

Advanced Science, EarlyView.
Chromosome 16q loss drives genomic instability through disruption of the CYLD–TIRR–53BP1 axis. CYLD preserves homologous recombination by stabilizing TIRR and limiting 53BP1 accumulation at DNA double‐strand breaks. CYLD deficiency redirects repair toward error‐prone non‐homologous end joining, promotes mutational burden and homologous recombination ...
Mingming Lu, Jialu Kang, Qi Ye, Zixi Wang, Lei Li, Yuzeshi Lei, Leihong Ye, Tianjie Liu, Bin Wang, Tao Liu, Shan Xu, Ke Wang, Yong Zhang, Jian Ma, Lei Li   +14 more
wiley   +1 more source

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency

Molecular Genetics & Genomic Medicine, 2020
Background Multiple sulfatase deficiency (MSD, MIM #272200) is an ultrarare congenital disorder caused by SUMF1 mutation and often misdiagnosed due to its complex clinical presentation.
Orna Staretz‐Chacham, Lars Schlotawa, Ohad Wormser, Inbal Golan‐Tripto, Ohad S. Birk, Carlos R. Ferreira, Thomas Dierks, Karthikeyan Radhakrishnan   +7 more
doaj   +1 more source

Targeting the NR1D1–IGF2BP2–V‐ATPase Axis With Hybrid Nanovesicles Restores Macrophage Rhythms to Reverse Sepsis‐Induced Immunosuppression

Advanced Science, EarlyView.
Sepsis disrupts immune‐cell rhythms and weakens bacterial clearance. Biomimetic nanovesicles combining erythrocyte and inflammation‐activated macrophage membranes deliver siNR1D1 to dysfunctional macrophages, restoring the NR1D1–IGF2BP2–V‐ATPase pathway, circadian regulation, phagolysosomal acidification, and antimicrobial defense.
Lang Chen, Wenyi Lin, Lang Jiang, Xuehui Gao, Chenyan Yu, Jili Han, Zhenping Liu, Xuefeng Li, Mei He, Chang Li, Qilan Li, Chaoying Song, Jiqian Xu, You Shang   +13 more
wiley   +1 more source

Etiologic disease & clinical characteristics of infantile hypotonia

, 2006
의학과/석사[한글] 근긴장저하는, 신생아시기에는 주로 비정상적인 자세와, 자발적 움직임이 부족한 양상으로 나타나며, 신생아기후의 영유아기에는 운동발달단계(motor milestone)의 지연으로 나타나기 때문에 재활의학과, 소아과, 신경과 의사들의 관심대상이 되어왔으나 그 원인질환의 범위가 매우 방대하며, 아직 밝혀지지 않은 부분도 많아 지속적인 연구가 필요한 부분이다.
김은혜
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