The molecular pathology of pituitary hormone deficiency and resistance (Q40422397)

20 September 2017

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title

The molecular pathology of pituitary hormone deficiency and resistance (English)

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20 September 2017

3

Clark AJ

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20 September 2017

Woods KA

1

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20 September 2017

Weber A

series ordinal

2

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20 September 2017

publication date

1 July 1995

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Bailliere's clinical endocrinology and metabolism

20 September 2017

published in

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20 September 2017

volume

9

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20 September 2017

issue

3

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20 September 2017

page(s)

453-487

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Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production

20 September 2017

cites work

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https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Laron dwarfism and mutations of the growth hormone-receptor gene

1 reference

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7 January 2021

Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism

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7 January 2021

Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome.

1 reference

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7 January 2021

Hypogonadism in a Male with Immunologically Active, Biologically Inactive Luteinizing Hormone: An Exception to a Venerable Rule*

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7 January 2021

Growth hormone-receptor gene in Laron dwarfism

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7 January 2021

Hypogonadism in a male with an immunologically active, biologically inactive luteinizing hormone: characterization of the abnormal hormone

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Stimulation of Adenosine 3′,5′-Monophosphate Production by Growth Hormone-Releasing Factor and Its Inhibition by Somatostatin in Anterior Pituitary Cellsin Vitro*

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Function of the Homeodomain Protein GHF1 in Pituitary Cell Proliferation

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Gonadotrophin-releasing hormone deficiency in a mutant mouse with hypogonadism

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Deprivation of growth hormone-releasing hormone early in the rat's neonatal life permanently affects somatotropic function

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Molecular insights into inherited ACTH resistance syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

The effect of recombinant human insulin-like growth factor-I treatment on growth hormone secretion in two subjects with growth hormone insensitivity (Laron syndrome)

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

High incidence of perinatal insult in children with idiopathic hypopituitarism

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Distribution and regulation of the prohormone convertases PC1 and PC2 in the rat pituitary

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Inherited Ateliotic Dwarfism in Mice: Characteristics of the mutation, little, on Chromosome 6

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Isolated ACTH deficiency: enzyme defect or chimaeric enzyme?

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Tissues of the Laron dwarf are sensitive to insulin-like growth factor I but not to growth hormone.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Corticotropin releasing activity of the new CRF is potentiated several times by vasopressin

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

A dual effector theory of growth-hormone action

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Molecular cloning and tissue distribution of a receptor for pituitary adenylate cyclase-activating polypeptide.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

The human growth hormone gene locus: structure, evolution, and allelic variations

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Signaling by the cytokine receptor superfamily: JAKs and STATs.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

A tissue-specific transcription factor containing a homeodomain specifies a pituitary phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

The POU-specific domain of Pit-1 is essential for sequence-specific, high affinity DNA binding and DNA-dependent Pit-1-Pit-1 interactions

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Receptor-associated resistance to growth hormone-releasing factor in dwarf "little" mice

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Diagnostic value of bioactive FSH in male infertility

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Plasma growth hormone (GH) responses to growth hormone releasing factor (hp GRF 1-44) in familial GH deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Responsiveness of hypophyseal-adrenocortical axis to repetitive administration of synthetic ovine corticotropin-releasing hormone in patients with isolated adrenocorticotropin deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Causes of short stature. A community study of children in Newcastle upon Tyne.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Glucocorticoid and Partial Mineralocorticoid Deficiency Associated with Achalasia*

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Classification of growth hormone insensitivity syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Growth hormone receptor and serum binding protein: purification, cloning and expression

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Pit-1-dependent expression of the receptor for growth hormone releasing factor mediates pituitary cell growth

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Molecular basis of the little mouse phenotype and implications for cell type-specific growth

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Selective ACTH deficiency in two siblings (author's transl)

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Regulation of the pituitary-specific homeobox gene GHF1 by cell-autonomous and environmental cues.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Human Growth Hormone: Complementary DNA Cloning and Expression in Bacteria

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

A deletion truncating the gonadotropin-releasing hormone gene is responsible for hypogonadism in the hpg mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

The hypogonadal mouse: reproductive functions restored by gene therapy

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Molecular cloning and expression of a pituitary-specific receptor for growth hormone-releasing hormone

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Expression-cloning and sequence of a cDNA encoding human growth hormone-releasing factor

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Familial isolated thyrotropin deficiency with cretinism

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Allgrove syndrome: an autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrima

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

The cloning of a family of genes that encode the melanocortin receptors

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Neural control of somatotropic function

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Isolated growth hormone deficiency: analysis of the growth hormone (GH)-releasing hormone gene and the GH gene cluster

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Constitutionally Short Stature: Analysis of the Insulin-Like Growth Factor-I Gene and the Human Growth Hormone Gene Cluster

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Isolated ACTH Deficiency with Absent Response to Corticotrophin-Releasing Factor—41: Evidence for a Primary Pituitary Defect

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Activation of cell-specific expression of rat growth hormone and prolactin genes by a common transcription factor

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

A prolactin-inhibiting factor within the precursor for human gonadotropin-releasing hormone

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Isolated congenital ACTH deficiency: a cleavage enzyme defect?

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Isolated ACTH deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

An improved in vitro bioassay for follicle-stimulating hormone (FSH): suitable for measurement of FSH in unextracted human serum

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Identification and functional characterization of two new somatic mutations causing constitutive activation of the thyrotropin receptor in hyperfunctioning autonomous adenomas of the thyroid

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Increased plasma concentrations, hypothalamic content, and in vitro release of arginine vasopressin in inflammatory disease-prone, hypothalamic corticotropin-releasing hormone-deficient Lewis rats

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Exclusion of growth hormone (GH)-releasing hormone gene mutations in familial isolated GH deficiency by linkage and single strand conformation analysis.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Ontogeny of Growth Hormone Releasing Hormone and Insulin-Like Growth Factors-I and-II Messenger RNA in Rat Placenta

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Genetic analysis of familial isolated growth hormone deficiency type I

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Aetiology of idiopathic growth hormone deficiency in England and Wales

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Melanocortin receptors: targets for control by extracellular calcium

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Isolated adrenocorticotropin deficiency associated with an autoantibody to a corticotroph antigen that is not adrenocorticotropin or other proopiomelanocortin-derived peptides

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

True pituitary Addison's disease, a pituitary unitropic deficiency; fifteen-year follow-up.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Familial unresponsiveness to thyrotropin by autosomal recessive inheritance

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Release of growth hormone binding protein from IM-9 lymphocytes by endopeptidase is dependent on sulfhydryl group inactivation

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Prevalence of severe growth hormone deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Hot spots for growth hormone gene deletions in homologous regions outside of Alu repeats

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Use of polymerase chain reaction in detection of growth hormone gene deletions

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Functional characterization of the cloned human ACTH receptor: impaired responsiveness of a mutant receptor in familial glucocorticoid deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Normal Sequence of the Gonadotropin-Releasing Hormone Gene in Patients with Idiopathic Hypogonadotropic Hypogonadism1

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Hypogonadism Caused by a Single Amino Acid Substitution in the β Subunit of Luteinizing Hormone

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

Growth hormone deficiency and empty sella syndrome in a boy with dup(X) (q13.3----q21.2).

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980536-2

7 January 2021

10.1016/S0950-351X(95)80536-2

Identifiers

DOI

1 reference

release_vokw43tb6remtpqez5qfwsj3nm

20 September 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/vokw43tb6remtpqez5qfwsj3nm

24 November 2022

mapped directly with Wikidata item

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