A dominant-negative mutation of the growth hormone receptor causes familial short stature

[1] IDENTIFICATION OF PHENYLALANINE-346 IN THE RAT GROWTH-HORMONE RECEPTOR AS BEING CRITICAL FOR LIGAND-MEDIATED INTERNALIZATION AND DOWN-REGULATION [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 1995, 270 (29) : 17210 - 17214

[2] A DOMINANT-NEGATIVE ERYTHROPOIETIN (EPO) RECEPTOR INHIBITS EPO-DEPENDENT GROWTH AND BLOCKS F-GP55-DEPENDENT TRANSFORMATION [J]. MOLECULAR AND CELLULAR BIOLOGY, 1994, 14 (04) : 2257 - 2265

[3] Berg Mary Anne, 1992, Human Mutation, V1, P24, DOI 10.1002/humu.1380010105

[4] DIMERIZATION OF THE EXTRACELLULAR DOMAIN OF THE HUMAN GROWTH-HORMONE RECEPTOR BY A SINGLE HORMONE MOLECULE [J]. SCIENCE, 1991, 254 (5033) : 821 - 825

[5] Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (20) : 10723 - 10728

[6] THE PROLINE-RICH REGION OF THE GH RECEPTOR IS ESSENTIAL FOR JAK2 PHOSPHORYLATION, ACTIVATION OF CELL-PROLIFERATION, AND GENE-TRANSCRIPTION [J]. MOLECULAR ENDOCRINOLOGY, 1995, 9 (12) : 1701 - 1707

[7] CYTOKINE RECEPTOR SIGNALING THROUGH 2 NOVEL FAMILIES OF TRANSDUCER MOLECULES - JANUS KINASES, AND SIGNAL TRANSDUCERS AND ACTIVATORS OF TRANSCRIPTION [J]. JOURNAL OF ENDOCRINOLOGY, 1995, 147 (01) : 11 - 23

[8] MUTATIONS OF THE GROWTH-HORMONE RECEPTOR IN CHILDREN WITH IDIOPATHIC SHORT STATURE [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1995, 333 (17) : 1093 - 1098

[9] CHARACTERIZATION OF THE HUMAN GROWTH-HORMONE RECEPTOR GENE AND DEMONSTRATION OF A PARTIAL GENE DELETION IN 2 PATIENTS WITH LARON-TYPE DWARFISM [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (20) : 8083 - 8087

[10] GROWTH-HORMONE RECEPTOR AND SERUM BINDING-PROTEIN - PURIFICATION, CLONING AND EXPRESSION [J]. NATURE, 1987, 330 (6148) : 537 - 543

[1] IDENTIFICATION OF PHENYLALANINE-346 IN THE RAT GROWTH-HORMONE RECEPTOR AS BEING CRITICAL FOR LIGAND-MEDIATED INTERNALIZATION AND DOWN-REGULATION [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 1995, 270 (29) : 17210 - 17214

[2] A DOMINANT-NEGATIVE ERYTHROPOIETIN (EPO) RECEPTOR INHIBITS EPO-DEPENDENT GROWTH AND BLOCKS F-GP55-DEPENDENT TRANSFORMATION [J]. MOLECULAR AND CELLULAR BIOLOGY, 1994, 14 (04) : 2257 - 2265

[3] Berg Mary Anne, 1992, Human Mutation, V1, P24, DOI 10.1002/humu.1380010105

[4] DIMERIZATION OF THE EXTRACELLULAR DOMAIN OF THE HUMAN GROWTH-HORMONE RECEPTOR BY A SINGLE HORMONE MOLECULE [J]. SCIENCE, 1991, 254 (5033) : 821 - 825

[5] Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (20) : 10723 - 10728

[6] THE PROLINE-RICH REGION OF THE GH RECEPTOR IS ESSENTIAL FOR JAK2 PHOSPHORYLATION, ACTIVATION OF CELL-PROLIFERATION, AND GENE-TRANSCRIPTION [J]. MOLECULAR ENDOCRINOLOGY, 1995, 9 (12) : 1701 - 1707

[7] CYTOKINE RECEPTOR SIGNALING THROUGH 2 NOVEL FAMILIES OF TRANSDUCER MOLECULES - JANUS KINASES, AND SIGNAL TRANSDUCERS AND ACTIVATORS OF TRANSCRIPTION [J]. JOURNAL OF ENDOCRINOLOGY, 1995, 147 (01) : 11 - 23

[8] MUTATIONS OF THE GROWTH-HORMONE RECEPTOR IN CHILDREN WITH IDIOPATHIC SHORT STATURE [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1995, 333 (17) : 1093 - 1098

[9] CHARACTERIZATION OF THE HUMAN GROWTH-HORMONE RECEPTOR GENE AND DEMONSTRATION OF A PARTIAL GENE DELETION IN 2 PATIENTS WITH LARON-TYPE DWARFISM [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (20) : 8083 - 8087

[10] GROWTH-HORMONE RECEPTOR AND SERUM BINDING-PROTEIN - PURIFICATION, CLONING AND EXPRESSION [J]. NATURE, 1987, 330 (6148) : 537 - 543