Listening to silence and understanding nonsense: exonic mutations that affect splicing

L Cartegni, SL Chew, AR Krainer - Nature reviews genetics, 2002 - nature.com
Point mutations in the coding regions of genes are commonly assumed to exert their effects
by altering single amino acids in the encoded proteins. However, there is increasing …

Estrogen receptor null mice: what have we learned and where will they lead us?

JF Couse, KS Korach - Endocrine reviews, 1999 - academic.oup.com
Elwood Jensen and Jack Gorski had spent 10 yr providing experimental evidence to support
the concept of an intracellular “receptor” protein for steroid hormones. Their combined work …

Alteration of reproductive function but not prenatal sexual development after insertional disruption of the mouse estrogen receptor gene.

DB Lubahn, JS Moyer, TS Golding… - Proceedings of the …, 1993 - National Acad Sciences
Estrogen receptor and its ligand, estradiol, have long been thought to be essential for
survival, fertility, and female sexual differentiation and development. Consistent with this …

Messenger-RNA-binding proteins and the messages they carry

G Dreyfuss, VN Kim, N Kataoka - Nature reviews Molecular cell biology, 2002 - nature.com
From sites of transcription in the nucleus to the outreaches of the cytoplasm, messenger
RNAs are associated with RNA-binding proteins. These proteins influence pre-mRNA …

Nonsense-mediated mRNA decay in health and disease

PA Frischmeyer, HC Dietz - Human molecular genetics, 1999 - academic.oup.com
All eukaryotes possess the ability to detect and degrade transcripts harboring premature
signals for the termination of translation. Despite the ubiquitous nature of nonsense …

Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency

BD Gelb, GP Shi, HA Chapman, RJ Desnick - Science, 1996 - science.org
Pycnodysostosis, an autosomal recessive osteochondrodysplasia characterized by
osteosclerosis and short stature, maps to chromosome 1q21. Cathepsin K, a cysteine …

Mutations of two P/WS homologues in hereditary nonpolyposis colon cancer

NC Nicolaides, N Papadopoulos, B Liu, YF Weit… - Nature, 1994 - nature.com
HEREDITARY nonpolyposis colorectal cancer (HNPCC) is one of man's commonest
hereditary diseases1. Several studies have implicated a defect in DNA mismatch repair in …

A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds.

LM Nogee, G Garnier, HC Dietz… - The Journal of …, 1994 - Am Soc Clin Investig
To determine the molecular defect accounting for the deficiency of pulmonary surfactant
protein B (SP-B) in full-term neonates who died from respiratory failure associated with …

Mutations in ABCC6 cause pseudoxanthoma elasticum

AAB Bergen, AS Plomp, EJ Schuurman, S Terry… - Nature …, 2000 - nature.com
Pseudoxanthoma elasticum (PXE) is a heritable disorder of the connective tissue. PXE
patients frequently experience visual field loss and skin lesions, and occasionally …

Marfan syndrome

RE Pyeritz - Emery and Rimoin's Principles and Practice of Medical …, 2025 - Elsevier
Heritable disorders of connective tissue can be due to Mendelian defects in the components
of the extracellular matrix, the enzymes that perform posttranslational processing, or in the …