当前位置： SCI文献检索 > MOLECULAR GENETICS AND METABOLISM期刊下所有文献 > Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations.

Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations.

Abstract：

:Human reproductive function is regulated mainly by luteinizing hormone (LH) and follicle-stimulating hormone (FSH). Mutations of the human LH/ chorionic gonadotropin receptor (LHR) and the FSH receptor (FSHR) leading to either constitutive activation or inactivation of the receptors have been identified. All activating mutations of the LHR and the FSHR are located within the exon encoding the transmembrane domain while the inactivating mutations are scattered throughout the coding sequence. A number of activating and inactivating mutations of the LHR have been found while only one activating and three inactivating mutations of the FSHR are known. Activating mutations of the LHR cause familial male-limited precocious puberty (FMPP) while that of the FSHR has been shown to restore the reproductive capability of a hypophysectomized male. Inactivating mutations of the LHR cause Leydig cell hypoplasia (LCH) in males while that of the FSHR causes hereditary hypergonadotropic ovarian dysgenesis (ODG) in females. Activating mutations of both receptors are dominant while inactivating mutations are recessive. Genotype-phenotype correlation is best established for the inactivating mutations of LHR. Severity of clinical phenotype in LCH correlates with the amount of residual activity of the mutated LHR. Comparison of the clinical impact of the activating and the inactivating mutations of the receptors indicates that male reproductive capacity depends primarily on LH while female reproductive capacity depends primarily on FSH.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Chan WY

doi

10.1006/mgme.1997.2650

subject

Has Abstract

pub_date

1998-02-01 00:00:00

pages

75-84

issue

2

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(97)92650-0

journal_volume

63

pub_type

杂志文章,评审

相关文献

MOLECULAR GENETICS AND METABOLISM文献大全
  • Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses.

    abstract：BACKGROUND:In phenylketonuria presymptomatic treatment following newborn screening prevents severe mental and physical impairment. The reasons for subtle impairments of cerebral functions despite early treatment remain unclear. We assessed a broad spectrum of visual functions in early-treated patients with phenylketonu...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.10.021

    authors： Gramer G,Förl B,Springer C,Weimer P,Haege G,Mackensen F,Müller E,Völcker HE,Hoffmann GF,Lindner M,Krastel H,Burgard P

    更新日期：2013-01-01 00:00:00

  • Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.

    abstract：PURPOSE:To present clinical, biochemical and molecular information on six new clinically diagnosed Krabbe disease patients and assess the sensitivity of retrospective galactocerebrosidase measurement in their newborn screening samples. METHODS:Medical records were reviewed. Galactocerebrosidase activity was measured i...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.10.010

    authors： Puckett RL,Orsini JJ,Pastores GM,Wang RY,Chang R,Saavedra-Matiz CA,Torres PA,Zeng B,Caggana M,Lorey F,Abdenur JE

    更新日期：2012-01-01 00:00:00

  • High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.

    abstract：:Isolated methylmalonic aciduria (MMA) results either from a defect in the mitochondrial enzyme methylmalonylCoA mutase (MCM), or in the intracellular conversion of vitamin B12 (cobalamin) into its active coenzyme adenosylcobalamin (AdoCbl). Mutations in the MMAB gene affect the function of the enzyme ATP:cob(I)alamin ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2013.04.020

    authors： Illson ML,Dempsey-Nunez L,Kent J,Huang Q,Brebner A,Raff ML,Watkins D,Gilfix BM,Wittwer CT,Rosenblatt DS

    更新日期：2013-09-01 00:00:00

  • An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II.

    abstract：:Mucolipidosis type II (ML II) is a fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features. ML II results from mutations in alpha and beta subunits, encoded by the GlcNAc-1-phosphotransferase gene (GNPTAB). Most of the 40 different GNPTAB mutations reported so fa...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2007.09.010

    authors： Tappino B,Regis S,Corsolini F,Filocamo M

    更新日期：2008-02-01 00:00:00

  • Toward understanding the neuronal pathogenesis of aspartylglucosaminuria: expression of aspartylglucosaminidase in brain during development.

    abstract：:The deficiency of a lysosomal enzyme, aspartylglucosaminidase, results in a lysosomal storage disorder, aspartylglucosaminuria, manifesting as progressive mental retardation. To understand tissue pathogenesis and disease progression we analyzed the developmental expression of the enzyme, especially in brain, which is ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1999.2872

    authors： Uusitalo A,Tenhunen K,Heinonen O,Hiltunen JO,Saarma M,Haltia M,Jalanko A,Peltonen L

    更新日期：1999-08-01 00:00:00

  • Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.

    abstract：:D-2-hydroxyglutaric aciduria (D-2-HGA) is a very rare autosomal recessive metabolic disorder that has recently been associated with mutations in the D-2-hydroxyglutarate dehydrogenase gene. The biochemical phenotype of D-2-HGA is defined by the accumulation of abnormal amounts of D-2-hydroxyglutarate in cerebrospinal ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2005.06.005

    authors： Misra VK,Struys EA,O'brien W,Salomons GS,Glover T,Jakobs C,Innis JW

    更新日期：2005-09-01 00:00:00

  • Reaching out to the lost generation of adults with early-treated phenylketonuria (PKU).

    abstract：:Many adult patients with phenylketonuria (PKU) are no longer receiving treatment for their disorder despite mounting evidence that elevated blood phenylalanine levels are associated with impairments of brain function manifested by neurocognitive deficits and psychiatric symptoms. An outreach program was established in...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2010.06.006

    authors： Burton BK,Leviton L

    更新日期：2010-10-01 00:00:00

  • Minimally invasive (13)C-breath test to examine phenylalanine metabolism in children with phenylketonuria.

    abstract：BACKGROUND:Phenylketonuria (PKU) is an autosomal recessive disorder caused by deficiency of hepatic phenylalanine hydroxylase (PAH) leading to increased levels of phenylalanine in the plasma. Phenylalanine levels and phenylalanine hydroxylase (PAH) activity monitoring are currently limited to conventional blood dot tes...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2015.04.005

    authors： Turki A,Murthy G,Ueda K,Cheng B,Giezen A,Stockler-Ipsiroglu S,Elango R

    更新日期：2015-06-01 00:00:00

  • Aortic distensibility in alkaptonuria.

    abstract：INTRODUCTION:Alkaptonuria (AKU) is a rare inherited disorder of tyrosine metabolism resulting in an accumulation of homogentisic acid oxidation products in the joints and cardiovascular system. Aortic distensibility may be a non-invasive indicator of cardiovascular complications. Descending thoracic aortic distensibili...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2020.05.006

    authors： Thimmapuram R,Bandettini WP,Shanbhag SM,Yu JH,O'Brien KJ,Gahl WA,Introne WJ,Chen MY

    更新日期：2020-08-01 00:00:00

  • Early orthotopic liver transplantation in urea cycle defects: follow up of a developmental outcome study.

    abstract：:Patients with neonatal urea cycle defects (UCDs) typically have high mortality and poor neurological outcome unless they receive liver transplantation. Neurologic outcome may be better with liver transplantation before age one year. We report on a follow up on an initial prospective study performed to assess developme...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2010.02.012

    authors： Campeau PM,Pivalizza PJ,Miller G,McBride K,Karpen S,Goss J,Lee BH

    更新日期：2010-01-01 00:00:00

  • Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.

    abstract：:In about 20-30% of phenylketonuria (PKU) patients, phenylalanine (Phe) levels can be controlled by cofactor 6R-tetrahydrobiopterin (BH(4)) administration. The phenylalanine hydroxylase (PAH) genotype has a predictive value concerning BH(4)-response and therefore a correct assessment of the mutation molecular pathology...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.05.013

    authors： Heintz C,Dobrowolski SF,Andersen HS,Demirkol M,Blau N,Andresen BS

    更新日期：2012-08-01 00:00:00

  • Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease.

    abstract：:Resveratrol (RSV) is a small compound first identified as an activator of sirtuin 1 (SIRT1), a key factor in mediating the effects of caloric restriction. Since then, RSV received great attention for its widespread beneficial effects on health and in connection to many diseases. RSV improves the metabolism and the mit...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2018.10.004

    authors： Dembic M,Andersen HS,Bastin J,Doktor TK,Corydon TJ,Sass JO,Lopes Costa A,Djouadi F,Andresen BS

    更新日期：2019-01-01 00:00:00

  • Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.

    abstract：:The enzymatic defect in Pompe disease is insufficient lysosomal acid alpha-glucosidase (GAA) activity which leads to lysosomal glycogen accumulation. We recently introduced a simple and reliable method to measure GAA activity in dried blood spots using Acarbose, a highly selective alpha-glucosidase inhibitor, to elimi...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2006.12.006

    authors： Kallwass H,Carr C,Gerrein J,Titlow M,Pomponio R,Bali D,Dai J,Kishnani P,Skrinar A,Corzo D,Keutzer J

    更新日期：2007-04-01 00:00:00

  • Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing.

    abstract：:The identification of disease causing mutation in patients with neurodegenerative disorders originating from small, non-consanguineous families is challenging. Three siblings were found to have ventriculomegaly at early gestation; postnatally, there was no acquisition of developmental milestones, and the muscles of th...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.09.020

    authors： Berger I,Ben-Neriah Z,Dor-Wolman T,Shaag A,Saada A,Zenvirt S,Raas-Rothschild A,Nadjari M,Kaestner KH,Elpeleg O

    更新日期：2011-12-01 00:00:00

  • Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells.

    abstract：:Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder resulting from the deficient activity of the heme biosynthetic enzyme uroporphyrinogen III synthase (UROS). Severely affected patients are transfusion dependent and have mutilating cutaneous manifestations. Successful bone marrow transplantat...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1998.2739

    authors： Kauppinen R,Glass IA,Aizencang G,Astrin KH,Atweh GF,Desnick RJ

    更新日期：1998-09-01 00:00:00

  • Apoptosis accompanied by up-regulation of TNF-alpha death pathway genes in the brain of Niemann-Pick type C disease.

    abstract：:Niemann-Pick disease type C (NP-C) is an autosomal recessive neurovisceral storage disease with neurodegeneration caused by mutations in either the NPC-1 or NPC-2 gene. The murine ortholog of NPC-1 is mutated in BALB/c npc(nih) and this mutant mouse shows equally conspicuous neurodegeneration and loss of neurons. Howe...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2004.08.017

    authors： Wu YP,Mizukami H,Matsuda J,Saito Y,Proia RL,Suzuki K

    更新日期：2005-01-01 00:00:00

  • Molecular cloning of junctin from human and developing rabbit heart.

    abstract：:Canine junctin is a 26-kDa transmembrane protein found in the sarcoplasmic reticulum (SR) membrane in cardiac and skeletal muscle. Junctin has recently been shown to bind directly to calsequestrin, the ryanodine receptor, and triadin. Junctin is thought to play a role in facilitating (and perhaps regulating) Ca(2+) re...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2000.2966

    authors： Wetzel GT,Ding S,Chen F

    更新日期：2000-03-01 00:00:00

  • Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.

    abstract：:We describe three novel deletions in the human AGT gene in three patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme, alanine glyoxylate aminotransferase (AGT; EC 2.6.1.44). A deletion of 4 nucleotides in the exon 6/intron 6 splice junc...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2001.3222

    authors： Coulter-Mackie MB,Rumsby G,Applegarth DA,Toone JR

    更新日期：2001-11-01 00:00:00

  • Mechanism of ruminant placental lactogen action: molecular and in vivo studies.

    abstract：:Ruminant placental lactogens (PLs) are structurally related to prolactins (PRLs) and growth hormones (GHs) and are secreted by placentae. Ruminant PLs are unusual in their capacity to bind and activate PRL and GH receptors (Rs) from other species. The present minireview summarizes several works showing that unlike in ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1006/mgme.2002.3303

    authors： Gertler A,Djiane J

    更新日期：2002-03-01 00:00:00

  • Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.

    abstract：:Tandem mass spectrometry (MS/MS) has been introduced in several newborn screening programs for the detection of a large number of inborn errors of metabolism, including fatty acid oxidation disorders (FAOD). Early identification and treatment of FAOD have the potential to improve outcome and may be life-saving in some...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2001.3282

    authors： Hintz SR,Matern D,Strauss A,Bennett MJ,Hoyme HE,Schelley S,Kobori J,Colby C,Lehman NL,Enns GM

    更新日期：2002-02-01 00:00:00

  • Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

    abstract：:Among the phenotypes associated with Gaucher disease, the deficiency of glucocerebrosidase, are rare patients with early onset, treatment-refractory parkinsonism. Sequencing of glucocerebrosidase in 17 such patients revealed 12 different genotypes. Fourteen patients had the common "non-neuronopathic" N370S mutation, i...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/s1096-7192(03)00071-4

    authors： Tayebi N,Walker J,Stubblefield B,Orvisky E,LaMarca ME,Wong K,Rosenbaum H,Schiffmann R,Bembi B,Sidransky E

    更新日期：2003-06-01 00:00:00

  • Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle.

    abstract：:Citrin is a mitochondrial aspartate glutamate carrier primarily expressed in the liver, heart, and kidney. We found that adult-onset type II citrullinemia is caused by mutations in the SLC25A13 gene that encodes for citrin. In this report, we describe the frequency of SLC25A13 mutations, the roles of citrin as a membe...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2004.01.006

    authors： Saheki T,Kobayashi K,Iijima M,Horiuchi M,Begum L,Jalil MA,Li MX,Lu YB,Ushikai M,Tabata A,Moriyama M,Hsiao KJ,Yang Y

    更新日期：2004-04-01 00:00:00

  • Newborn screening and diagnosis of mucopolysaccharidoses.

    abstract：:Mucopolysaccharidoses (MPS) are caused by deficiency of lysosomal enzyme activities needed to degrade glycosaminoglycans (GAGs), which are long unbranched polysaccharides consisting of repeating disaccharides. GAGs include: chondroitin sulfate (CS), dermatan sulfate (DS), heparan sulfate (HS), keratan sulfate (KS), an...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2013.06.007

    authors： Tomatsu S,Fujii T,Fukushi M,Oguma T,Shimada T,Maeda M,Kida K,Shibata Y,Futatsumori H,Montaño AM,Mason RW,Yamaguchi S,Suzuki Y,Orii T

    更新日期：2013-09-01 00:00:00

  • A common variant near the PRL gene is associated with increased adiposity in males.

    abstract：:A common variant (rs4712652) adjacent to the prolactin gene was recently associated with obesity using a genome-wide association study. The aim of this study was to replicate the association between rs4712652 and obesity and further examine if rs4712652 is associated with fat percentage and adiponectin levels in a pop...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2010.08.017

    authors： Nilsson L,Olsson AH,Isomaa B,Groop L,Billig H,Ling C

    更新日期：2011-01-01 00:00:00

  • The effects of sapropterin on urinary monoamine metabolites in phenylketonuria.

    abstract：BACKGROUND:Sapropterin dihydrochloride (BH4, tetrahydrobiopterin) can lower plasma phenylalanine (Phe) concentrations for a subset of patients with phenylketonuria (PKU), an inborn error of metabolism. Studies suggest that monoamine neurotransmitter concentrations are low in PKU patients. Sapropterin functions as a cof...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2013.04.017

    authors： Douglas TD,Jinnah HA,Bernhard D,Singh RH

    更新日期：2013-07-01 00:00:00

  • Increased superoxide accumulation in pyruvate dehydrogenase complex deficient fibroblasts.

    abstract：:The pyruvate dehydrogenase complex (PDC) oxidizes pyruvate to acetyl CoA and is critically important in maintaining normal cellular energy homeostasis. Loss-of-function mutations in PDC give rise to congenital lactic acidosis and to progressive cellular energy failure. However, the subsequent biochemical consequences ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.07.023

    authors： Glushakova LG,Judge S,Cruz A,Pourang D,Mathews CE,Stacpoole PW

    更新日期：2011-11-01 00:00:00

  • CYP gene polymorphisms and early menarche.

    abstract：:Early age at menarche is a risk factor for breast cancer. A previous study reported a significant positive association between the CYP3A4*1B variant allele and early puberty. We investigated whether polymorphisms of the CYP3A4, CYP17, CYP1B1, and CYP1A2 genes predict the age at onset of menarche. Five hundred eighty-t...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2001.3260

    authors： Lai J,Vesprini D,Chu W,Jernström H,Narod SA

    更新日期：2001-12-01 00:00:00

  • Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease.

    abstract：:This 24-week, Phase I/II, double-blind, randomized, placebo-controlled study investigated the safety and efficacy of extended-release albuterol in late-onset Pompe disease stably treated with enzyme replacement therapy at the standard dose for 4.9 (1.0-9.4) years and with no contraindications to intake of albuterol. T...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,随机对照试验

    doi：10.1016/j.ymgme.2019.12.008

    authors： Koeberl DD,Case LE,Desai A,Smith EC,Walters C,Han SO,Thurberg BL,Young SP,Bali D,Kishnani PS

    更新日期：2020-02-01 00:00:00

  • X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment.

    abstract：:X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene that encodes a peroxisomal membrane located ABC half-transporter named ALDP. Mutations in ALDP result in elevated levels of very long-chain fatty acids (VLCFA) and reduced VLCFA beta-oxidation in peroxisomes. The peroxisomal membrane harbor...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2006.10.001

    authors： Kemp S,Wanders RJ

    更新日期：2007-03-01 00:00:00

  • Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention.

    abstract：:Pompe Disease (PD) is a lysosomal storage disease caused by acid α-glucosidase deficiency. The infantile form typically results in death in the first year of life. Patient survival has improved with enzyme replacement therapy (ERT), but new complications are being recognized. We report three cases of infantile onset P...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.11.013

    authors： Tan QK,Cheah SM,Dearmey SM,Kishnani PS

    更新日期：2013-02-01 00:00:00