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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …