Results 111 to 120 of about 468,507 (253)

Disarming the Hsp70–Bim Alliance: Small‐Molecule and Peptidic Disruptors of a Chaperone‐Apoptotic Switch in Cancer

ChemistryOpen, EarlyView.
Targeting a nucleotide‐sensitive groove on Hsp70 that binds the Bim BH3 helix, we integrate structures, biophysics, and SAR from peptides, fragments, and phenalene‐dicarbonitrile “wedges.” These disrupt the Hsp70–Bim complex with sub‐µM cellular engagement and in vivo activity while sparing Hsp90/mortalin.
Emadeldin M. Kamel, Mohammed Al‐zharani, Lina M. Alneghery, Noha A. Ahmed, Faris F. Aba Alkhayl, Al Mokhtar Lamsabhi   +5 more
wiley   +1 more source

A novel NPHS1 variant in a Chinese infant with congenital nephrotic syndrome: a case report and literature review. [PDF]

Front Pediatr
Zhang W, Hou LM, Cheng X.
europepmc   +1 more source

Pedigree Chart- Michelle LeAnn Topham

, 2016
Michelle L. Sours
openalex   +1 more source

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

Pediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo, Yanwei He, Jin Xu, Qiang Shen, Yuxuan Guo, Motoi Kanagawa, Tatsushi Toda, Jingmin Wang, Hong Zhang, Hui Xiong   +18 more
wiley   +1 more source

Novel mutations of maternal effect gene thyroid hormone receptor interactor 13 involved in biparental complete hydatidiform mole. [PDF]

Medicine (Baltimore)
Zhan Q, Yang X, Wang Y.
europepmc   +1 more source

Range‐wide sampling reveals cryptic lineages but largely conserved mycorrhizal associations in the Japanese fairy lantern Thismia kobensis

PLANTS, PEOPLE, PLANET, EarlyView.
The jewel‐like flowers of Thismia are as rare as they are beautiful, often recorded from only a single site per species. Access to 15 populations of T. kobensis has enabled an uncommon, range‐wide assessment of morphology, genetics, and fungal partners. Our analyses showed that T.
Kenji Suetsugu, Kazuma Takizawa, Kazuki Inui, Akihiro Nishimura, Shun K. Hirota   +4 more
wiley   +1 more source

Identification of a Novel Likely Pathogenic Variant of DIAPH3 Associated With New Phenotype of Sensorineural Hearing Loss. [PDF]

Mol Genet Genomic Med
Zeng L, Zheng Q, Wu X, Chen G, Xie L, Qiu W, Ning F, Bai L, Zhang Q.   +8 more
europepmc   +1 more source

A comprehensive checklist of Mediterranean wild edible plants: Diversity, traditional uses, and knowledge gaps

PLANTS, PEOPLE, PLANET, EarlyView.
The use of wild edible plants and the traditional knowledge associated with them are rapidly disappearing across the Mediterranean, with serious consequences for biodiversity, cultural heritage, and regional food security. This study compiles and organizes fragmented information to create the first comprehensive catalogue of these plants across the ...
Benedetta Gori, Tiziana Cossu, Hicham El Zein, Udayangani Liu, Tiziana Ulian, Gianluigi Bacchetta   +5 more
wiley   +1 more source

Clinical and genetic investigations of five Chinese families with Birt-Hogg-Dubé syndrome: a long-term follow-up study. [PDF]

Front Med (Lausanne)
Kang X, Guo T, Basit A, Liu L, Luo H.
europepmc   +1 more source

Treatment Response and Outcomes of Prostate Cancer Patients Carrying the Germline MMS22L F722fs Mutation

The Prostate, EarlyView.
ABSTRACT Background Methyl Methanesulfonate‐Sensitivity Protein 22‐Like (MMS22L) plays a key role in homology‐directed DNA repair, and experimental models have shown that its loss confers sensitivity to Poly (ADP‐ribose) polymerase inhibitors (PARPi).
Mayuko Kanayama, Violet A. Daniels, Marta Gielzak, Alex Brame, Misop Han, Li Jia, Jianfeng Xu, Tamara L. Lotan, Mario A. Eisenberger, Catherine H. Marshall, Patrick C. Walsh, William B. Isaacs, Jun Luo   +12 more
wiley   +1 more source