Genetische Erkrankungen der Adenohypophyse

Manna PR et al. (2002) Synthesis, purification and structural and functional characterization of recombinant form of a common genetic variant of human luteinizing hormone.

Hägg E et al. (1978) Isolated FSH deficiency in a male. A case report.

Basciani S et al. (2012) Hypogonadism in a patient with two novel mutations of the luteinizing hormone β-subunit gene expressed in a compound heterozygous form.

Achard C et al. (2009) Normal spermatogenesis in a man with mutant luteinizing hormone.

Valdes-Socin H et al. (2009) Testicular effects of isolated luteinizing hormone deficiency and reversal by long-term human chorionic gonadotropin treatment.

Lofrano-Porto A et al. (2007) Luteinizing hormone beta mutation and hypogonadism in men and women.

Valdes-Socin H et al. (2004) Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene.

Ma X et al. (2004) Targeted disruption of luteinizing hormone beta-subunit leads to hypogonadism, defects in gonadal steroidogenesis, and infertility.

Park JY et al. (2004) EGF-like growth factors as mediators of LH action in the ovulatory follicle.

Takahashi K et al. (2003) Influence of missense mutation and silent mutation of LHbeta-subunit gene in Japanese patients with ovulatory disorders.

Lee S et al. (2003) Genetic analysis of three polymorphic sites of the luteinizing hormone beta-subunit gene in infertile Korean men with nonobstructive azoospermia.

Liao WX et al. (2002) Functional characterization of a natural variant of luteinizing hormone.

Rabinowitz D et al. (1979) Isolated follicle-stimulating hormone deficiency revisited. Ovulation and conception in presence of circulating antibody to follicle-stimulating hormone.

Curtin D et al. (2001) Androgen suppression of GnRH-stimulated rat LHbeta gene transcription occurs through Sp1 sites in the distal GnRH-responsive promoter region.

Kim NK et al. (2001) The luteinizing hormone beta-subunit exon 3 (Gly102Ser) gene mutation is rare in Korean women with endometriosis and polycystic ovary syndrome.

Quirk CC et al. (2001) A single Pitx1 binding site is essential for activity of the LHbeta promoter in transgenic mice.

Kaiser UB et al. (2000) Sp1, steroidogenic factor 1 (SF-1), and early growth response protein 1 (egr-1) binding sites form a tripartite gonadotropin-releasing hormone response element in the rat luteinizing hormone-beta gene promoter: an integral role for SF-1.

Weck J et al. (2000) Divergent and composite gonadotropin-releasing hormone-responsive elements in the rat luteinizing hormone subunit genes.

Ramanujam LN et al. (2000) Association of molecular variants of luteinizing hormone with male infertility.

Ramanujam LN et al. (1999) Association of molecular variants of luteinizing hormone with menstrual disorders.

Tapanainen JS et al. (1999) A new contributing factor to polycystic ovary syndrome: the genetic variant of luteinizing hormone.

van den Beld A et al. (1999) Luteinizing hormone and different genetic variants, as indicators of frailty in healthy elderly men.

Ramanujam L et al. () Molecular variants of luteinizing hormone in three populations of Southeast Asia.

Liao WX et al. (1998) A new molecular variant of luteinizing hormone associated with female infertility.

Faglia G et al. (1979) Thyrotropin secretion in patients with central hypothyroidism: evidence for reduced biological activity of immunoreactive thyrotropin.

Kohno H et al. (1980) Pituitary cretinism in two sisters.

Nygren A et al. (1982) Isolated thyrotropin deficiency in a man with narcoleptic attacks.

Sawin CT et al. (1966) Isolated lack of thyrotropin in man.

Zisman E et al. (1969) Studies in pseudohypoparathyroidism. Two new cases with a probable selective deficiency of thyrotropin.

Pittman JA et al. (1971) Hypothalamic hypothyroidism.

Mitnick M et al. (1972) Enzymatic synthesis of thyrotropin releasing hormone (TRH) by hypothalamic "TRH synthetase".

None (1974) Glandular end organ deficiency associated with secretion of biologically inactive pituitary peptides.

Grabow JD et al. (1968) Thyrotropin hormone deficiency with a peripheral neuropathy.

Miyai K et al. (1971) Familial isolated thyrotropin deficiency with cretinism.

Illig R et al. (1975) Elevated plasma TSH and hypothyroidism in children with hypothalamic hypopituitarism.

Petersen VB et al. (1978) The secretion of thyrotrophin with impaired biological activity in patients with hypothalamic-pituitary disease.

Phillips DJ et al. (1997) Changes in the isoforms of luteinizing hormone and follicle-stimulating hormone during puberty in normal children.

Layman LC et al. (2002) FSH beta gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia.

Lindstedt G et al. (1998) Follitropin (FSH) deficiency in an infertile male due to FSHbeta gene mutation. A syndrome of normal puberty and virilization but underdeveloped testicles with azoospermia, low FSH but high lutropin and normal serum testosterone concentrations.

Phillip M et al. (1998) Male hypogonadism due to a mutation in the gene for the beta-subunit of follicle-stimulating hormone.

Matthews C et al. (1997) Isolated deficiency of follicle-stimulating hormone re-revisited.

Layman LC et al. (1997) Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene.

Matthews CH et al. (1993) Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone.

None (1971) Eli Lilly lecture. The subunits of pituitary thyrotropin--their relationship to other glycoprotein hormones.

None (1972) Anterior pituitary--six glands and one.

Rabin D et al. (1972) Isolated deficiency of follicle-stimulating hormone. Clinical and laboratory features.

Bell J et al. (1975) Isolated deficiency of follicle-stimulating hormone: Further studies.

Vallette-Kasic S et al. (2005) Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.

Laurent P et al. (2005) The prolactin-releasing peptide antagonizes the opioid system through its receptor GPR10.

Lagerström MC et al. (2005) Origin of the prolactin-releasing hormone (PRLH) receptors: evidence of coevolution between PRLH and a redundant neuropeptide Y receptor during vertebrate evolution.

Gu W et al. (2004) The prolactin-releasing peptide receptor (GPR10) regulates body weight homeostasis in mice.

Franks PW et al. (2004) Association between physical activity and blood pressure is modified by variants in the G-protein coupled receptor 10.

Bhattacharyya S et al. (2003) Association of polymorphisms in GPR10, the gene encoding the prolactin-releasing peptide receptor with blood pressure, but not obesity, in a U.K. Caucasian population.

Takahashi K et al. (2002) Expression of prolactin-releasing peptide and its receptor in the human adrenal glands and tumor tissues of adrenocortical tumors, pheochromocytomas and neuroblastomas.

Ozawa A et al. (2002) Transcriptional regulation of the human PRL-releasing peptide (PrRP) receptor gene by a dopamine 2 Receptor agonist: cloning and characterization of the human PrRP receptor gene and its promoter region.

Lin SH et al. (2001) The carboxyl terminus of the prolactin-releasing peptide receptor interacts with PDZ domain proteins involved in alpha-amino-3-hydroxy-5-methylisoxazole-4-propionic acid receptor clustering.

Langmead CJ et al. (2000) Characterization of the binding of [(125)I]-human prolactin releasing peptide (PrRP) to GPR10, a novel G protein coupled receptor.

Marchese A et al. (1995) Cloning and chromosomal mapping of three novel genes, GPR9, GPR10, and GPR14, encoding receptors related to interleukin 8, neuropeptide Y, and somatostatin receptors.

Couture C et al. (2012) Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.

Lücking T et al. (1975) [Selective ACTH deficiency in two siblings (author's transl)].

Lamolet B et al. (2001) A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins.

Malpuech G et al. (1988) Isolated familial adrenocorticotropin deficiency: prenatal diagnosis by maternal plasma estriol assay.

Borck G et al. (2004) Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.

Brumm H et al. (2002) Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect.

Pohlenz J et al. (2002) Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.

Vuissoz JM et al. (2001) New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism.

Bonomi M et al. (2001) Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene.

Doeker BM et al. (1998) Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance.

Medeiros-Neto G et al. (1996) A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene.

Hayashizaki Y et al. (1989) Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit.

Pettersson K et al. (1992) An immunologically anomalous luteinizing hormone variant in a healthy woman.

Roy AC et al. (1996) Identification of seven novel mutations in LH beta-subunit gene by SSCP.

Muyan M et al. (1996) The carboxy-terminal region of the beta-subunits of luteinizing hormone and chorionic gonadotropin differentially influence secretion and assembly of the heterodimers.

Raivio T et al. (1996) The role of luteinizing hormone-beta gene polymorphism in the onset and progression of puberty in healthy boys.

Albanese C et al. (1996) The gonadotropin genes: evolution of distinct mechanisms for hormonal control.

Furui K et al. (1994) Identification of two point mutations in the gene coding luteinizing hormone (LH) beta-subunit, associated with immunologically anomalous LH variants.

Haavisto AM et al. (1995) Occurrence and biological properties of a common genetic variant of luteinizing hormone.

Beitins IZ et al. (1981) Hypogonadism in a male with an immunologically active, biologically inactive luteinizing hormone: characterization of the abnormal hormone.

Talmadge K et al. () Evolution of the genes for the beta subunits of human chorionic gonadotropin and luteinizing hormone.

Talmadge K et al. (1983) The human genome contains seven genes for the beta-subunit of chorionic gonadotropin but only one gene for the beta-subunit of luteinizing hormone.

Shome B et al. (1973) The primary structure of the hormone-specific, beta subunit of human pituitary luteinizing hormone (hLH).

Peng XR et al. (1991) Localization of luteinizing hormone receptor messenger ribonucleic acid expression in ovarian cell types during follicle development and ovulation.

Dacou-Voutetakis C et al. (1990) Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.

Weiss J et al. (1992) Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone.

Sairam MR et al. (1975) Human pituitary lutropin. Isolation, properties, and the complete amino acid sequence of the beta-subunit.

Axelrod L et al. (1979) Hypogonadism in a male with immunologically active, biologically inactive luteinizing hormone: an exception to a venerable rule.

ODELL WD et al. (1960) Hypoadrenotropism: the isolated deficiency of adrenotropic hormone.

Kyllo JH et al. (1996) Linkage of congenital isolated adrenocorticotropic hormone deficiency to the corticotropin releasing hormone locus using simple sequence repeat polymorphisms.

Funder JW et al. (1993) Isolated ACTH deficiency: enzyme defect or chimaeric enzyme?

Nussey SS et al. (1993) Isolated congenital ACTH deficiency: a cleavage enzyme defect?

Ichiba Y et al. (1983) Isolated corticotropin deficiency.

Hung W et al. (1968) Hypoglycemia in a two-year-old boy with adrenocorticotropic hormone (ACTH) deficiency (probably isolated) and adrenal medullary unresponsiveness to insulin-induced hypoglycemia.

Aynsley-Green A et al. (1978) Isolated ACTH deficiency. Metabolic and endocrine studies in a 7-year-old boy.