Citation Impact
Citing Papers
Binding of 5′-GTP to the C-terminal FeS cluster of the radical S -adenosylmethionine enzyme MoaA provides insights into its mechanism
2006
Systematic analysis of dynamic miRNA-target interactions during C. elegans development
2009 StandoutNobel
Case Detection, Diagnosis, and Treatment of Patients with Primary Aldosteronism: An Endocrine Society Clinical Practice Guideline
2008 Standout
Gene conversion in steroid 21-hydroxylase genes.
1990
Neonatal Systemic AAV Induces Tolerance to CNS Gene Therapy in MPS I Dogs and Nonhuman Primates
2015
The Molybdenum Cofactor
2013
Targeted resequencing of a genomic region influencing tameness and aggression reveals multiple signals of positive selection
2011 StandoutNobel
Thiocarboxylation of Molybdopterin Synthase Provides Evidence for the Mechanism of Dithiolene Formation in Metal-binding Pterins
2001
Crystal structure of molybdopterin synthase and its evolutionary relationship to ubiquitin activation.
2001
Dedicated Metallochaperone Connects Apoenzyme and Molybdenum Cofactor Biosynthesis Components
2008
Initiation of translation in prokaryotes and eukaryotes
1999
Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care
2016
Crystal Structure of the Gephyrin-related Molybdenum Cofactor Biosynthesis Protein MogA from Escherichia coli
2000
Clinical and Molecular Genetics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
1991
Mis-translation of a Computationally Designed Protein Yields an Exceptionally Stable Homodimer: Implications for Protein Engineering and Evolution
2006 StandoutNobel
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline
2010
Protein-bound molybdenum cofactor is bioavailable and rescues molybdenum cofactor-deficient C. elegans
2021 StandoutNobel
Neonatal screening for congenital adrenal hyperplasia
2009
Melanin Pigmentation in Mammalian Skin and Its Hormonal Regulation
2004 Standout
Comparative genomics and evolution of molybdenum utilization
2011
S-adenosylmethionine and radical-based catalysis
2006
Cushing's syndrome
2015 Standout
The Role of Tyrosine 343 in Substrate Binding and Catalysis by Human Sulfite Oxidase
2004
The muscular dystrophies
2002 Standout
RNAi
2000 Standout
Amino acids: metabolism, functions, and nutrition
2009 Standout
Altered glycan structures: the molecular basis of congenital disorders of glycosylation
2005
Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline
2016 Standout
Neonatal screening for muscular dystrophy
1993
Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology
2006 StandoutNobel
Deletion Mutation in Drosophila ma-l Homologous, Putative Molybdopterin Cofactor Sulfurase Gene Is Associated with Bovine Xanthinuria Type II
2000
Normal Female Infants Born of Mothers with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency1
1999
Diagnosis and Treatment of Polycystic Ovary Syndrome: An Endocrine Society Clinical Practice Guideline
2013 Standout
A gene expression map of Arabidopsis thaliana development
2005 Standout
Biological roles of glycans
2016 Standout
A Protein Conjugation System in Yeast with Homology to Biosynthetic Enzyme Reaction of Prokaryotes
2000 StandoutNobel
Enzymatic assembly of carbon–carbon bonds via iron-catalysed sp3 C–H functionalization
2018 StandoutNatureNobel
Nitric oxide synthases: structure, function and inhibition
2001 Standout
Adrenal disease in pregnancy
2011
A Mutation (Pro-30 to Leu) inCYP21 Represents a Potential Nonclassic Steroid 21-Hydroxylase Deficiency Allele
1991
Identification of the Bovine Arachnomelia Mutation by Massively Parallel Sequencing Implicates Sulfite Oxidase (SUOX) in Bone Development
2010
Cell biology of molybdenum
2009
Glutaminolysis and Transferrin Regulate Ferroptosis
2015 Standout
Mutation of Human Molybdenum Cofactor Sulfurase Gene Is Responsible for Classical Xanthinuria Type II
2001
Simultaneous determination of 12 steroids by isotope dilution liquid chromatography-photospray ionization tandem mass spectrometry
2006
Xanthine oxidoreductase is central to the evolution and function of the innate immune system
2003 StandoutNobel
Mechanistic and Mutational Studies of Escherichia coli Molybdopterin Synthase Clarify the Final Step of Molybdopterin Biosynthesis
2003
Integrative annotation of human large intergenic noncoding RNAs reveals global properties and specific subclasses
2011 Standout
The Androgen Excess and PCOS Society criteria for the polycystic ovary syndrome: the complete task force report
2008 Standout
Insights into molybdenum cofactor deficiency provided by the crystal structure of the molybdenum cofactor biosynthesis protein MoaC
2000
Significance of Plant Sulfite Oxidase
2007
Molybdoproteomes and Evolution of Molybdenum Utilization
2008
The two subunits of human molybdopterin synthase: Evidence for a bicistronic messenger RNA with overlapping reading frames
1999
Coexpression of Neighboring Genes in the Genome of Arabidopsis thaliana
2004
Mechanistic Studies of Human Molybdopterin Synthase Reaction and Characterization of Mutants Identified in Group B Patients of Molybdenum Cofactor Deficiency
2003
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2
2010
Adeno-associated virus vector as a platform for gene therapy delivery
2019 Standout
Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence
2004 Standout
Stem Cell-derived Neural Stem/Progenitor Cell Supporting Factor Is an Autocrine/Paracrine Survival Factor for Adult Neural Stem/Progenitor Cells
2003 StandoutNobel
Hyperphenylalaninemia with High Levels of 7-Biopterin is Associated with Mutations in the PCBD Gene Encoding the Bifunctional Protein Pterin-4a-Carbinolamine Dehydratase and Transcriptional Coactivator (DCoH)
1998
Consensus Statement on Management of Intersex Disorders
2006 Standout
Disorders of the Aldosterone Synthase and Steroid 11β-Hydroxylase Deficiencies
1999
The evolutionary dynamics of eukaryotic gene order
2004
Synthesis of Adenylated Molybdopterin
2004
Structure and stability of the molybdenum cofactor intermediate cyclic pyranopterin monophosphate
2011
Crystal structures of human gephyrin and plant Cnx1 G domains: comparative analysis and functional implications
2001
Molecular genetics and genetic counselling for Duchenne/Becker muscular dystrophy
1993
Molybdenum cofactor transfer from bacteria to nematode mediates sulfite detoxification
2019 StandoutNobel
Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
2007
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
1992
Five mouse homologues of the human dendritic cell C-type lectin, DC-SIGN
2001 StandoutNobel
Chromosomal Location and Genomic Structure of the Human Translin-Associated Factor X Gene (TRAX; TSNAX) Revealed by Intergenic Splicing to DISC1, a Gene Disrupted by a Translocation Segregating with Schizophrenia
2000
lincRNAs act in the circuitry controlling pluripotency and differentiation
2011 StandoutNature
The Phenylalanine Hydroxylating System
1993
Cystine transporter SLC7A11/xCT in cancer: ferroptosis, nutrient dependency, and cancer therapy
2020 Standout
The Diagnosis of Polycystic Ovary Syndrome during Adolescence
2015 Standout
The Crystal Structure of Escherichia coli MoeA and Its Relationship to the Multifunctional Protein Gephyrin
2001
Physiological functions of mineral micronutrients (Cu, Zn, Mn, Fe, Ni, Mo, B, Cl)
2009 Standout
Structural and Biochemical Identification of a Novel Bacterial Oxidoreductase
2004
Epidermal H2O2 Accumulation Alters Tetrahydrobiopterin (6BH4) Recycling in Vitiligo: Identification of a General Mechanism in Regulation of All 6BH4-Dependent Processes?
2001
GeneMarkS: a self-training method for prediction of gene starts in microbial genomes. Implications for finding sequence motifs in regulatory regions
2001 Standout
Synthesis of Cyclic Pyranopterin Monophosphate, a Biosynthetic Intermediate in the Molybdenum Cofactor Pathway
2013
Mutations in the pterin-4α-carbinolamine dehydratase ( PCBD ) gene cause a benign form of hyperphenylalaninemia
1998
Guidelines of the American Thyroid Association for the Diagnosis and Management of Thyroid Disease During Pregnancy and Postpartum
2011 Standout
Guidelines for the Treatment of Hypothyroidism: Prepared by the American Thyroid Association Task Force on Thyroid Hormone Replacement
2014 Standout
2017 Guidelines of the American Thyroid Association for the Diagnosis and Management of Thyroid Disease During Pregnancy and the Postpartum
2017 Standout
Tandem Mass Spectrometry Improves the Accuracy of Free Thyroxine Measurements During Pregnancy
2007
TheC. elegansheterochronic genelin-46affects developmental timing at two larval stages and encodes a relative of the scaffolding protein gephyrin
2004 StandoutNobel
Phenotype-Genotype Correlations of 13 Rare CYP21A2 Mutations Detected in 46 Patients Affected with 21-Hydroxylase Deficiency and in One Carrier
2010
Difference in transcriptional activity of two homologous CYP21A genes.
1995
Hypoxia-inducible factor induces cysteine dioxygenase and promotes cysteine homeostasis in Caenorhabditis elegans
2023 StandoutNobel
Physiological Implications of Hydrogen Sulfide: A Whiff Exploration That Blossomed
2012 Standout
Steroid disorders in children: Congenital adrenal hyperplasia and apparent mineralocorticoid excess
1999
Spectroscopic studies of molybdenum and tungsten enzymes
2011
Magnesium in Man: Implications for Health and Disease
2014 Standout
The Molybdenum Cofactor Biosynthetic Protein Cnx1 Complements Molybdate-Repairable Mutants, Transfers Molybdenum to the Metal Binding Pterin, and Is Associated with the Cytoskeleton
2000
Homeostatic Responses in the Adrenal Cortex to the Absence of Aldosterone in Mice
2005 StandoutNobel
Results of Screening 1.9 Million Texas Newborns for 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
1998
Endocrine and Paracrine Regulation of Birth at Term and Preterm*
2000 Standout
Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency*
2000
Structural Studies of the Molybdenum Center of the Pathogenic R160Q Mutant of Human Sulfite Oxidase by Pulsed EPR Spectroscopy and 17O and 33S Labeling
2008
SULFUR AMINO ACID METABOLISM: Pathways for Production and Removal of Homocysteine and Cysteine
2004
Sexual and Gender Minority Health: What We Know and What Needs to Be Done
2008 Standout
Mammalian molybdo-flavoenzymes, an expanding family of proteins: structure, genetics, regulation, function and pathophysiology
2003
Molybdenum cofactor biosynthesis in plants and humans
2011
Newborn screening for inborn errors of metabolism: a systematic review.
1997
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline
2018
FEMINIZING GENITOPLASTY FOR CONGENITAL ADRENAL HYPERPLASIA: WHAT HAPPENS AT PUBERTY?
1999
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
2011 Standout
Phenotype-Genotype Correlation in 56 Women with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
2001
Sampling and energy evaluation challenges in ligand binding protein design
2017 StandoutNobel
Dealing with methionine/homocysteine sulfur: cysteine metabolism to taurine and inorganic sulfur
2010
Crystal Structure of a Molybdopterin Synthase−Precursor Z Complex: Insight into Its Sulfur Transfer Mechanism and Its Role in Molybdenum Cofactor Deficiency,
2007
Screening for hyperglycaemia in pregnancy: a rapid update for the National Screening Committee
2010 StandoutNobel
Essential Role of Conserved Arginine 160 in Intramolecular Electron Transfer in Human Sulfite Oxidase
2003
Successful Treatment of Molybdenum Cofactor Deficiency Type A With cPMP
2010
The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline
2016 Standout
New Ways of Initiating Translation in Eukaryotes?
2001
Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency
1996
The neurotransmitter receptor-anchoring protein gephyrin reconstitutes molybdenum cofactor biosynthesis in bacteria, plants, and mammalian cells
1999
The Mononuclear Molybdenum Enzymes
2014 Standout
C–C bond forming radical SAM enzymes involved in the construction of carbon skeletons of cofactors and natural products
2018
MOLYBDENUM COFACTOR BIOSYNTHESIS AND MOLYBDENUM ENZYMES
2006
A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.
1990
The Pathogenic Human Sulfite Oxidase Mutants G473D and A208D Are Defective in Intramolecular Electron Transfer
2005
Identification of a Cyclic Nucleotide as a Cryptic Intermediate in Molybdenum Cofactor Biosynthesis
2013
Coordinated assembly of human translation initiation complexes by the hepatitis C virus internal ribosome entry site RNA
2004 StandoutNobel
Congenital Disorders of Glycosylation: A Rapidly Expanding Disease Family
2007
Works of C. Dorche being referenced
Human Molybdopterin Synthase Gene: Genomic Structure and Mutations in Molybdenum Cofactor Deficiency Type B
1999
Studies on the interaction of a thiol-dependent hydrogen peroxide scavenging enzyme and phenylalanine hydroxylase
1990
Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources
2003
Spherophakia associated with molybdenum cofactor deficiency
1997
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A
1998
Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase
2005
Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase defieiency
1988
Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients
2002
Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia
2004
Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency
1998
5‐Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome
1991
Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
1988
Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement
2000
SYSTEMATIC NEONATAL SCREENING FOR DUCHENNE MUSCULAR DYSTROPHY
1978
Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers
2000
False negative thiosulphate screening test in a case of molybdenum cofactor deficiency
1999
Worldwide Experience in Newborn Screening for Classical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
1988
CDG IIx with unusual phenotype
2004
Molybdenum cofactor deficiency: first prenatal genetic analysis
1999
[Systematic neonatal detection of Duchenne's muscular dystrophy. Results after 10 years' of experience in Lyons (France)].
1987