Results 91 to 100 of about 468,507 (253)

A Novel Homozygous GFI1B Mutation in Siblings With Thrombocytopenia and Bleeding Tendency. [PDF]

Clin Case Rep
Aryal S, Aryal S, Adhikari S, Adhikari P.   +3 more
europepmc   +1 more source

A Pan‐Cancer Microenvironment Atlas Constructed by DECEPTICONx

iMetaMed, EarlyView.
DECEPTICONx builds the most comprehensive pan‐cancer TME atlas to date from > 11,000 TCGA samples using 535,665 single cells, revealing 102 immune/stromal subtypes with robust novel associations to patient outcomes, immunotherapy response, and intercellular coordination in the TME.
Yida Gu, Fulan Deng, Lianchong Gao, Zhiyu Chen, Jianping Chen, Jiale Wu, Zengqiang Xia, Zhijian Li, Fangkaikai Cheng, Jie Chen, Henry H. Y. Tong, Wantao Chen, Xiaoqing Pan, Xin Zou, Jie Hao   +14 more
wiley   +1 more source

Reproductive performance, inbreeding evolution, and genetic diversity of the Venezuelan Carora cattle evaluated through pedigree analysis. [PDF]

Front Vet Sci
Cartuche-Macas LF, Perez-Gonzalez JR, Jimenez-Quintero EJ, Gutiérrez-Reinoso MA, Garcia-Flores J, García-Herreros M.   +5 more
europepmc   +1 more source

Family Pedigree and Fan Chart for Matt R obertson Family History

, 2016
Matt W. Robertson
openalex   +1 more source

A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE

Journal of neurology and psychiatry, 1943
Martin Jp, J. Bell
semanticscholar   +1 more source

Mimicking DOUGONG brackets orchestrate regulating inflammation and mechanical stimuli for osteochondral regeneration using 3D printing

Interdisciplinary Medicine, EarlyView.
Akermanite scaffolds promote osteogenic differentiation of BMSCs through regulating the PI3K/Akt signaling pathway, and strontium ions enhance the akermanite effects by mediating the cytokine‐cytokine receptor interaction pathway. Thus, the enhancements of osteogenesis in subchondral bone coupled with the chondral‐promoting effects of chondrocytes ...
Bo Li, Yaqi Zhang, Xuerui Zhou, Weiguo Wang, Fan Yang, Qiushi Wei, Leilei Chen, Ziqi Li, Mincong He, Xiaoming He, Shengting Chai, Xiuhong Cao, Rui Wang, Tongmeng Jiang, Chen Wang, Wei He   +15 more
wiley   +1 more source

Dual Targeted Therapy with Baricitinib and Anifrolumab in Infantile Spondyloenchondrodysplasia with Immune Dysregulation. [PDF]

J Clin Immunol
Pandurangi S, Soucy N, Moreda CM, Singh V, Wysocki CA.   +4 more
europepmc   +1 more source

Integrative Genomics Reveals Causal Pleiotropy and Therapeutic Opportunities at the Interface of Acute Pancreatitis and Infection

Journal of Hepato-Biliary-Pancreatic Sciences, EarlyView.
ABSTRACT Background Understanding the genetic links between acute pancreatitis (AP) and its infectious comorbidities is crucial for prognosis and therapy, yet remains underexplored. Methods We conducted a comprehensive post‐GWAS analysis using large‐scale summary statistics for AP and 16 infectious diseases. To pinpoint pleiotropic genes, we integrated
Bo Zou, Hao Jiang, Jingsheng Ruan, Daifeng Yang, Xing Chen, Shanshan Cai, Xinglin Yi   +6 more
wiley   +1 more source

Case Report: Novel mutations in two patients with <i>MED13L</i>-related intellectual disability highlighting the importance of genetic counseling. [PDF]

Front Genet
Cao H, He T, Wang J, Zhou C, Wei X, Zhang X.   +5 more
europepmc   +1 more source

First Report of Homozygous COL7A1 c.5756delG Mutation Causing Recessive Dystrophic Epidermolysis Bullosa in a Non‐Consanguineous Japanese Family

JEADV Clinical Practice, EarlyView.
ABSTRACT Severe recessive dystrophic epidermolysis bullosa (RDEB) is usually caused by biallelic loss‐of‐function mutations in COL7A1. While the c.5756delG variant has been previously reported in heterozygous form, its clinical impact in homozygosity has not been described.
Nozomi Kohama, Sayaka Yamaguchi, Teruki Yanagi, Yumi Akamine, Kimiko Nonaka, Daisuke Utsumi, Kenzo Takahashi   +6 more
wiley   +1 more source