Results 221 to 230 of about 1,506,824 (383)

Creating A Course Based Undergraduate Research Experience (CURE) Genetics Yeast Laboratory Course at Xavier University of Louisiana

Biochemistry and Molecular Biology Education, EarlyView.
ABSTRACT Course‐based undergraduate research experiences (CUREs) are important for providing undergraduates with authentic research experiences. At Xavier University of Louisiana, a Genetics Laboratory CURE course was developed and implemented. The goals of developing this Genetics CURE laboratory course were: (1) to provide a large number of students ...
Joanna E. Haye‐Bertolozzi, Cecily B. DeFreece, Christopher Bolden, Kalila Daveron, Hector Biliran   +4 more
wiley   +1 more source

Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IX

, 1993
P. M. Green, V. E. Mitchell, Adam P. McGraw, E. Goldman, F. Giannelli   +4 more
openalex   +1 more source

Missense-Mutation [PDF]

, 2018
openaire   +1 more source

The impact of missense mutations on human behavior

Brain Research Bulletin, 2012
Mohajeri, M. Hasan, Giese, K. Peter
openaire   +4 more sources

Extranodal diffuse large B‐cell lymphoma: Clinical and molecular insights with survival outcomes from the multicenter EXPECT study

Cancer Communications, EarlyView.
Abstract Background Diffuse large B‐cell lymphoma (DLBCL) is the most common subtype of aggressive non‐Hodgkin's lymphoma with distinct clinical and molecular heterogeneity. DLBCL that arises in extranodal organs is particularly linked to poor prognosis. This study aimed to determine the clinical and molecular characteristics of extranodal involvement (
Si‐Yuan Chen, Peng‐Peng Xu, Ru Feng, Guo‐Hui Cui, Li Wang, Shu Cheng, Rong‐Ji Mu, Hui‐Lai Zhang, Xiao‐Lei Wei, Yong‐Ping Song, Kai‐Yang Ding, Li‐Hua Dong, Zun‐Min Zhu, Shen‐Miao Yang, Xin Wang, Ting‐Bo Liu, Jian‐Da Hu, Xiao‐Yun Zheng, Ou Bai, Jing‐Yan Xu, Liang Huang, Wei Sang, Ke‐Qian Shi, Fan Zhou, Fei Li, Ai‐Bin Liang, Hui Zhou, Si‐Guo Hao, Hong‐Hui Huang, Bin Xu, Wen‐Bin Qian, Cai‐Xia Li, Zhi‐Ming Li, Chong‐Yang Wu, Xiao‐Bo Wang, Wen‐Yu Shi, Shu‐Ye Wang, Yu‐Yang Tian, Xi Zhang, Ke‐Shu Zhou, Li‐Juan Cui, Hui Liu, Huo Tan, Qing Leng, Dong‐Lu Zhao, Ting Niu, Wei‐Li Zhao   +46 more
wiley   +1 more source

A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia [PDF]

, 1998
Naoya Sugimoto, Sadahiko Iwamoto, Yuichi Hoshino, Eiji Kajii   +3 more
openalex   +1 more source

Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene

Stem Cell Research
X-linkded Ohdo syndrome is characterized mainly by intellectual disability, delays in reaching development, feeding difficulties, thyroid dysfunction, and dysmorphic appearance with blepharophimosis, immobile mask-like face and bulbous nose. The X-linked
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj  

Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation

Molecular Genetics and Metabolism Reports, 2018
A study published in 2012 estimated incidence of MPS IVA, in 0.68 cases per 100, 000 live births in Colombia, and according to the Colombian Fund for High-Cost Diseases, in 2014 there were 15 people diagnosed with MPS IV.
Lina Johanna Moreno Giraldo, Ángela María Escudero Rodríguez, Adalberto Sánchez Gómez, José María Satizabal Soto   +3 more
doaj  

Dominant‐Negative Effects of p53 R337 Variants in Li–Fraumeni Syndrome: Impact on Tetramer Formation and Transcriptional Activity

ChemBioChem, EarlyView.
Hetero‐tetramer dysfunction: Li–Fraumeni syndrome (LFS) is a hereditary cancer predisposition caused by mutations in the TP53 gene encoding the tumor suppressor p53. It is shown that p53 variants R337C and R337H, found in LFS, impair wild‐type (WT) p53 function by forming heterotetramers with reduced transcriptional activity.
Rui Kamada, Shuya Sakaguchi, Madoka Kanno, Takaaki Ozawa, Natsumi Nakagawa, James G. Omichinski, Kazuyasu Sakaguchi   +6 more
wiley   +1 more source

Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

Current Protocols in Human Genetics, 2013
I. Adzhubei, D. Jordan, S. Sunyaev
semanticscholar   +1 more source