Results 241 to 250 of about 1,408,208 (397)

Male Sterility in Mice Homozygous for the Tw2 Allele [PDF]

, 1968
PG Johnston
openalex   +1 more source

NF2 is Essential for Human Endoderm Development

Advanced Science, EarlyView.
This study demonstrates that NF2, moesin‐ezrin‐radixin like (MERLIN) tumor suppressor (NF2) is essential for human endoderm formation. NF2 knockout human induced pluripotent stem cells fail to form endoderm both in vitro and in vivo due to yes‐associated protein 1 (YAP1) nuclear translocation, redirecting differentiation toward myofibroblast‐like cells.
Minjin Jeong, Dongjun Han, Preetida Bhetariya, D. Bradley Welling, Miodrag Stojkovic, Konstantina M. Stankovic   +5 more
wiley   +1 more source

Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 234-237, January 2023., 2023
Abstract Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post‐mortem examination showed an unusual vacuolar appearance of the brain.
Spatikha Sitaram, Hetalika C. Banka, Grace Vassallo, Julija Pavaine, Adele Fairclough, Ronnie Wright, Lynette Fairbanks, Jörgen Bierau, Lydia Bowden, Bernd Schwahn, Alistair Horman, Siddharth Banka   +11 more
wiley   +1 more source

Comparison Between Antigen and Allelic HLA Mismatches, and the Risk of Acute Rejection in Kidney Transplant Recipients. [PDF]

HLA
Gately R, Taverniti A, Watson N, Teixeira-Pinto A, Ooi E, Lalji R, Francis R, Sullivan L, Mulley W, Wyburn K, Campbell S, Hawley C, Wong G, Lim WH.   +13 more
europepmc   +1 more source

RESPONSES OF ESTERASE 6 ALLELES OF DROSOPHILA MELANOGASTER AND D. SIMULANS TO SELECTION IN EXPERIMENTAL POPULATIONS

, 1966
Ross J Mac Intyre, Theodore R. F. Wright
openalex   +2 more sources

Cost‐Effective Identification of Hepatocellular Carcinoma from Cirrhosis or Chronic Hepatitis Virus Infection Using Eight Methylated Plasma DNA Markers

Advanced Science, EarlyView.
Early detection of hepatocellular carcinoma in patients with liver cirrhosis and/or hepatitis virus B/C infection improves survival. Through marker discovery, 8 methylated DNA markers are identified and a logistic regression model (COMET‐LR) is built in the training set, which achieved 90.0% sensitivity at 97.4% specificity in the validation set.
Tian Yang, Mingda Wang, Nanya Wang, Mingxin Pan, Yu Xu, Qiancheng You, Lanqing Yao, Jiahao Xu, Lihui Gu, Xiaodong Sun, Lei Zhang, Jiayue Xu, Bingsi Li, Guoqiang Wang, Shangli Cai, Guoyue Lv, Feng Shen   +16 more
wiley   +1 more source

Predicting invasion risk of grasses in novel environments requires improved genomic understanding of adaptive potential

, 2022
American Journal of Botany, Volume 109, Issue 12, Page 1965-1968, December 2022.
Emily S. Bellis, Rima D. Lucardi, Kristin Saltonstall, Travis D. Marsico   +3 more
wiley   +1 more source

Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 332-337, February 2023., 2023
Abstract GTF2IRD1, a gene on chromosome 7 which encodes a transcription factor, is of significant clinical interest due to its heterozygous loss as part of the classical deletion associated with Williams–Beuren syndrome (WBS). However, biallelic variants in GTF2IRD1 alone as part of an autosomal recessive disease have not been previously reported. Here,
Christopher Thomas Cummings, Lois Janelle Starr   +1 more
wiley   +1 more source

AN ALLELE SPECIFIC AND A COMPLEMENTARY DETERMINANT CONTROLLING HOMOTHALLISM IN SACCHAROMYCES OVIFORMIS

, 1967
Isamu Takano, Yasuji Oshima
openalex   +2 more sources

Investigations of the nature of t-alleles in the mouse [PDF]

, 1964
Mary F. Lyon, R Meredith
openalex   +1 more source