Results 91 to 100 of about 10,831,444 (295)

Conserved structural motifs in PAS, LOV, and CRY proteins regulate circadian rhythms and are therapeutic targets

FEBS Letters, EarlyView.
Cryptochrome and PAS/LOV proteins play intricate roles in circadian clocks where they act as both sensors and mediators of protein–protein interactions. Their ubiquitous presence in signaling networks has positioned them as targets for small‐molecule therapeutics. This review provides a structural introduction to these protein families.
Eric D. Brinckman, Anna E. Lester, Brian D. Zoltowski   +2 more
wiley   +1 more source

Identification of eight genes associated with recurrent patellar dislocation

iScience
Summary: The inheritance of recurrent patellar dislocation (RPD) is known, but the susceptible gene remains unidentified. Here, we performed the first whole exome sequencing (WES) cohort study to identify the susceptible genes.
Zijie Xu, Siyuan Huang, Yifan Song, Chao Xu, Hongyu Yan, Ouyang Linkun, Bo Lv, Fuzhen Yuan, Bingbing Xu, Haijun Wang, Ruibin Xi, Jia-Kuo Yu   +11 more
doaj   +1 more source

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Blood cell traits and venous thromboembolism in East Asians: Observational and genetic evidence

iScience
Summary: Previous studies have indicated that various blood cell traits are associated with a higher risk of venous thromboembolism (VTE). However, the causal relationship remains uncertain.
Haobo Li, Mengjie Duo, Zhu Zhang, Haoyi Weng, Dong Liu, Yu Zhang, Linfeng Xi, Bingzhang Zou, Huiwen Li, Gang Chen, Xianbo Zuo, Kaoru Ito, Wanmu Xie, Peiran Yang, Chen Wang, Zhenguo Zhai   +15 more
doaj   +1 more source

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2021
Kandamurugu Manickam, M. McClain, L. Demmer, Sawona Biswas, H. Kearney, J. Malinowski, L. Massingham, Danny Miller, T. Yu, F. Hisama   +9 more
semanticscholar   +1 more source

PICALM::MLLT10 translocated leukemia

FEBS Letters, EarlyView.
This comprehensive review of PICALM::MLLT10 translocated acute leukemia provides an in‐depth review of the structure and function of CALM, AF10, and the fusion oncoprotein (1). The multifaceted molecular mechanisms of oncogenesis, including nucleocytoplasmic shuttling (2), epigenetic modifications (3), and disruption of endocytosis (4), are then ...
John M. Cullen, Antonia C. Nakatsugawa, Natalie Barton, Henry Haines, Gary S. Stein, Janet L. Stein, Daniel S. Wechsler, Jessica L. Heath   +7 more
wiley   +1 more source

Circulating biomarkers of kidney angiomyolipoma and cysts in tuberous sclerosis complex patients

iScience
Summary: Patients with tuberous sclerosis complex (TSC) develop multi-organ disease manifestations, with kidney angiomyolipomas (AML) and cysts being one of the most common and deadly.
Varvara I. Rubtsova, Yujin Chun, Joohwan Kim, Cuauhtemoc B. Ramirez, Sunhee Jung, Wonsuk Choi, Miranda E. Kelly, Miranda L. Lopez, Elizabeth Cassidy, Gabrielle Rushing, Dean J. Aguiar, Wei Ling Lau, Rebecca S. Ahdoot, Moyra Smith, Aimee L. Edinger, Sang-Guk Lee, Cholsoon Jang, Gina Lee   +17 more
doaj   +1 more source

Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers. [PDF]

Cureus, 2023
Kumari K, Saleh I, Taslim S, Ahmad S, Hussain I, Munir Z, Javed T, Virk MFI, Javed S, Bisharat P, Ur Rehman U.   +10 more
europepmc   +1 more source

Cell wall target fragment discovery using a low‐cost, minimal fragment library

FEBS Letters, EarlyView.
LoCoFrag100 is a fragment library made up of 100 different compounds. Similarity between the fragments is minimized and 10 different fragments are mixed into a single cocktail, which is soaked to protein crystals. These crystals are analysed by X‐ray crystallography, revealing the binding modes of the bound fragment ligands.
Kaizhou Yan, Mathew Stanley, Olawale Raimi, Andrew T. Ferenbach, Helge C Dorfmueller, Daan M. F. van Aalten   +5 more
wiley   +1 more source

Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice

iScience
Summary: Recognizing individuals with Genetic tumor syndromes (GTS) in the primary central nervous system (CNS) tumors is crucial for optimizing proper genetic counseling and improving therapeutics and clinical care.
Chuanwei Wang, Jian Chen, Yanzhao Wang, Ningning Luo, Tiantian Han, Xiangyu Yin, Yunjie Song, Dongsheng Chen, Jie Gong   +8 more
doaj   +1 more source