Results 211 to 220 of about 462,672 (344)

Discovery and Biosynthesis of the Novel Glycotetrapeptide Antibiotic Biffamycin A

Angewandte Chemie, EarlyView.
Genetic de‐regulation of a silent biosynthetic pathway allowed isolation and characterisation of a novel glycopeptide antibiotic named biffamycin A, which harbours unprecedented 5‐chloro‐4‐methoxy tryptophan and 3R‐hydroxy(α‐D‐mannoysl)‐D‐lysine moieties and is bioactive against MRSA and VRSA.
Michael W. Brigham, Edward S. Hems, Daniel C. L. Van, Justin E. Clarke, Sergey Nepogodiev, Julius S. P. Adamson, Christian Bassi, Michael E. Webb, Glyn R. Hemsworth, Orde Q. Munro, Barrie Wilkinson, Ryan F. Seipke   +11 more
wiley   +2 more sources

Deletion of chromosome 5q and familial adenomatous polyposis. [PDF]

, 1989
Kaitlyn Hockey, Marie T. Mulcahy, Paul Montgomery, S. Levitt   +3 more
openalex   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Monozygotic twins with chromosome 22q11 deletion and discordant phenotypes: updates with an epigenetic hypothesis [PDF]

, 2002
Sumnima Singh, B Murphy, R O’Reilly
openalex   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Prenatal diagnosis and clinical evaluation of fetuses with structural X chromosome abnormalities: a ten-year single-center retrospective study. [PDF]

BMC Med Genomics
Zhang L, Zhuang J, Chen W, Chen X, Huang N.   +4 more
europepmc   +1 more source

Chromosome deletion mapping of interspersed low-copy repetitive DNA.

, 1984
Steve J. Funderburk, R S Sparkes, I Klisak, M L Law   +3 more
openalex  

Deletion of Chromosome 2 q37 and Autism: A Distinct Subtype?

, 1999
Mohammad Ghaziuddin, Margit Burmeister
openalex   +2 more sources

A large deletion of chromosome no. 1 (46,XY,1?--). [PDF]

, 1968
Dagfinn Aarskog
openalex   +1 more source

Humanized immune system animal models and their recent applications

Animal Models and Experimental Medicine, EarlyView.
In this review, we provide an updated and comprehensive overview of the current state of humanized immune system animal model research. We discuss the variety of techniques used to produce humanized mice with their respective strengths and weaknesses, and evaluate the advantages and limitations of these models, including issues with incomplete immune ...
Nicolas Skuli, Rudra B. Amin, A’ishah Bakayoko, Marisa Kruidenier, Sahara Aqui, Sarah J. Skuli, Terence P. Gade   +6 more
wiley   +1 more source