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Functional Characterization of Melanocortin-4 Receptor Mutations Associated with Childhood Obesity

Endocrinology (Philadelphia), 2003-10, Vol.144 (10), p.4544-4551

2003

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Functional Analyses of Melanocortin-4 Receptor Mutations Identified from Patients with Binge Eating Disorder and Nonobese or Obese Subjects

The journal of clinical endocrinology and metabolism, 2005-10, Vol.90 (10), p.5632-5638

2005

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Intracellularly Located Misfolded Glycoprotein Hormone Receptors Associate with Different Chaperone Proteins than Their Cognate Wild-Type Receptors

Molecular endocrinology (Baltimore, Md.), 2004-07, Vol.18 (7), p.1768-1777

2004

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Functional Characterization of Melanocortin-3 Receptor Variants Identify a Loss-of-Function Mutation Involving an Amino Acid Critical for G Protein-Coupled Receptor Activation

The journal of clinical endocrinology and metabolism, 2004-08, Vol.89 (8), p.3936-3942

2004

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Constitutive and Agonist-dependent Self-association of the Cell Surface Human Lutropin Receptor

The Journal of biological chemistry, 2004-02, Vol.279 (7), p.5904-5914

2004

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The lutropin/choriogonadotropin receptor ... 4 years later

Endocrine reviews, 1993-06, Vol.14 (3), p.324-347

Segaloff, D. L.

1993

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The Formation of a Salt Bridge Between Helices 3 and 6 Is Responsible for the Constitutive Activity and Lack of Hormone Responsiveness of the Naturally Occurring L457R Mutation of the Human Lutropin Receptor

The Journal of biological chemistry, 2005-07, Vol.280 (28), p.26169-26176

2005

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Naturally Occurring Mutations of the Luteinizing-Hormone Receptor: Lessons Learned about Reproductive Physiology and G Protein–Coupled Receptors

American journal of human genetics, 1999-10, Vol.65 (4), p.949-958

1999

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Deletion of Codons 88–92 of the Melanocortin-4 Receptor Gene: A Novel Deleterious Mutation in an Obese Female

The journal of clinical endocrinology and metabolism, 2003-12, Vol.88 (12), p.5841-5845

2003

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Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys : A novel constitutively activating mutation in the first transmembrane helix

The journal of clinical endocrinology and metabolism, 2000-12, Vol.85 (12), p.4799-4805

2000

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A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty

The journal of clinical endocrinology and metabolism, 1998-07, Vol.83 (7), p.2435-2440

1998

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Extracellular domain of lutropin/choriogonadotropin receptor expressed in transfected cells binds choriogonadotropin with high affinity

The Journal of biological chemistry, 1990-12, Vol.265 (35), p.21411-21414

1990

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A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor

Molecular endocrinology (Baltimore, Md.), 1998-03, Vol.12 (3), p.442-450

1998

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Constitutive activation of the LH receptor is associated with an alteration in the conformation of the ectodomain

Molecular and cellular endocrinology, 2002-08, Vol.194 (1), p.211-215

2002

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Constitutive activation of G protein-coupled receptors as a result of selective substitution of a conserved leucine residue in transmembrane helix III

Molecular endocrinology (Baltimore, Md.), 2000-08, Vol.14 (8), p.1272-1282

2000

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Desensitization of Gs-Coupled Receptor Signaling by Constitutively Active Mutants of the Human Lutropin/Choriogonadotropin Receptor

The journal of clinical endocrinology and metabolism, 2003-03, Vol.88 (3), p.1194-1204

2003

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Association of gonadotropin receptor precursors with the protein folding chaperone calnexin

Endocrinology (Philadelphia), 1998-04, Vol.139 (4), p.1588-1593

1998

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N-linked carbohydrates on G protein-coupled receptors: Mapping sites of attachment and determining functional roles

Methods in Enzymology, 2002, Vol.343, p.200-212

2002

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Certain activating mutations within helix 6 of the human luteinizing hormone receptor may be explained by alterations that allow transmembrane regions to activate Gs

Molecular endocrinology (Baltimore, Md.), 1998-12, Vol.12 (12), p.1857

1998

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Mutational analyses of the extracellular domain of the full-length lutropin/choriogonadotropin receptor suggest leucine-rich repeats 1-6 are involved in hormone binding

Molecular endocrinology (Baltimore, Md.), 1996-06, Vol.10 (6), p.760-768

1996

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Disruption of potential sites for N-linked glycosylation does not impair hormone binding to the lutropin/choriogonadotropin receptor if Asn-173 is left intact

The Journal of biological chemistry, 1993-01, Vol.268 (3), p.1513-1516

1993

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Isolation of TSH and LH/CG receptor cDNAs from human thyroid : regulation by tissue specific splicing

Molecular endocrinology (Baltimore, Md.), 1990-08, Vol.4 (8), p.1264-1276

1990

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Evidence that the FSH receptor itself is not a calcium channel

Endocrinology (Philadelphia), 1992-08, Vol.131 (2), p.979-981

1992

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Immunoprecipitation of the lutropin/choriogonadotropin receptor from biosynthetically labeled Leydig tumor cells. A 92-kDa Glycoprotein

The Journal of biological chemistry, 1987-01, Vol.262 (1), p.470-477

1987

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The myxedema reflex in infants and children with hypothyroidism

The Journal of pediatrics, 1959, Vol.54 (1), p.46-49

1959

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Functional Characterization of Melanocortin-4 Receptor Mutations Associated with Childhood Obesity

Functional Analyses of Melanocortin-4 Receptor Mutations Identified from Patients with Binge Eating Disorder and Nonobese or Obese Subjects

Intracellularly Located Misfolded Glycoprotein Hormone Receptors Associate with Different Chaperone Proteins than Their Cognate Wild-Type Receptors

Functional Characterization of Melanocortin-3 Receptor Variants Identify a Loss-of-Function Mutation Involving an Amino Acid Critical for G Protein-Coupled Receptor Activation

Constitutive and Agonist-dependent Self-association of the Cell Surface Human Lutropin Receptor

The lutropin/choriogonadotropin receptor ... 4 years later

The Formation of a Salt Bridge Between Helices 3 and 6 Is Responsible for the Constitutive Activity and Lack of Hormone Responsiveness of the Naturally Occurring L457R Mutation of the Human Lutropin Receptor

Naturally Occurring Mutations of the Luteinizing-Hormone Receptor: Lessons Learned about Reproductive Physiology and G Protein–Coupled Receptors

Deletion of Codons 88–92 of the Melanocortin-4 Receptor Gene: A Novel Deleterious Mutation in an Obese Female

Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys : A novel constitutively activating mutation in the first transmembrane helix

A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty

Extracellular domain of lutropin/choriogonadotropin receptor expressed in transfected cells binds choriogonadotropin with high affinity

A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor

Constitutive activation of the LH receptor is associated with an alteration in the conformation of the ectodomain

Constitutive activation of G protein-coupled receptors as a result of selective substitution of a conserved leucine residue in transmembrane helix III

Desensitization of Gs-Coupled Receptor Signaling by Constitutively Active Mutants of the Human Lutropin/Choriogonadotropin Receptor

Association of gonadotropin receptor precursors with the protein folding chaperone calnexin

N-linked carbohydrates on G protein-coupled receptors: Mapping sites of attachment and determining functional roles

Certain activating mutations within helix 6 of the human luteinizing hormone receptor may be explained by alterations that allow transmembrane regions to activate Gs

Mutational analyses of the extracellular domain of the full-length lutropin/choriogonadotropin receptor suggest leucine-rich repeats 1-6 are involved in hormone binding

Disruption of potential sites for N-linked glycosylation does not impair hormone binding to the lutropin/choriogonadotropin receptor if Asn-173 is left intact

Isolation of TSH and LH/CG receptor cDNAs from human thyroid : regulation by tissue specific splicing

Evidence that the FSH receptor itself is not a calcium channel

Immunoprecipitation of the lutropin/choriogonadotropin receptor from biosynthetically labeled Leydig tumor cells. A 92-kDa Glycoprotein

The myxedema reflex in infants and children with hypothyroidism

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