Citation Impact
Citing Papers
Genomic Variation in Seven Khoe-San Groups Reveals Adaptation and Complex African History
2012 Science
TRP Channels as Potential Drug Targets
2017
Isolated 17,20-Lyase Deficiency due to the Cytochrome b5 Mutation W27X
2010
The Common P450 Oxidoreductase Variant A503V Is Not a Modifier Gene for 21-Hydroxylase Deficiency
2008
Structure of the human TRPM4 ion channel in a lipid nanodisc
2017 StandoutScienceNobel
CD8+CD205+ Splenic Dendritic Cells Are Specialized to Induce Foxp3+ Regulatory T Cells
2008 StandoutNobel
Conformational flexibility and molecular interactions of an archaeal homologue of the Shwachman-Bodian-Diamond syndrome protein
2009
Structure of the TRPA1 ion channel suggests regulatory mechanisms
2015 StandoutNatureNobel
Osteoporosis
2019 Standout
Discoveries in structure and physiology of mechanically activated ion channels
2020 StandoutNatureNobel
Growth Hormone Treatment of Non–Growth Hormone-Deficient Growth Disorders
2007
Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis
2005
Increased Basal Activity Is a Key Determinant in the Severity of Human Skeletal Dysplasia Caused by TRPV4 Mutations
2011
Phosphorylation on TRPV4 Serine 824 Regulates Interaction with STIM1
2015
Transcription factors in bone: developmental and pathological aspects
2002
Channel opening and gating mechanism in AMPA-subtype glutamate receptors
2017 StandoutNatureNobel
Mechanisms of TGF-β Signaling from Cell Membrane to the Nucleus
2003 Standout
Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein
2001 StandoutNobel
Pro-resolving lipid mediators are leads for resolution physiology
2014 StandoutNature
Modulation of Human CYP19A1 Activity by Mutant NADPH P450 Oxidoreductase
2007
The Shwachman-Bodian-Diamond Syndrome Protein Family Is Involved in RNA Metabolism
2005
P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia
2006
P450 Oxidoreductase Expressed in Rat Chondrocytes Modulates Chondrogenesis via Cholesterol- and Indian Hedgehog-Dependent Mechanisms
2009
TGF-β1–induced migration of bone mesenchymal stem cells couples bone resorption with formation
2009 Standout
Irritant-evoked activation and calcium modulation of the TRPA1 receptor
2020 StandoutNatureNobel
Structural basis of BMP signalling inhibition by the cystine knot protein Noggin
2002 Nature
The grateful dead: damage‐associated molecular pattern molecules and reduction/oxidation regulate immunity
2007
Effects of genetic variants of human P450 oxidoreductase on catalysis by CYP2D6 in vitro
2010
ClinVar: public archive of relationships among sequence variation and human phenotype
2013 Standout
Bone Quality — The Material and Structural Basis of Bone Strength and Fragility
2006 Standout
Osteoporosis: now and the future
2011 Standout
What a difference a hydroxyl makes: mutant IDH, (R)-2-hydroxyglutarate, and cancer
2013 StandoutNobel
Bisphosphonate-Induced Osteopetrosis
2003
Mechanically Activated Ion Channels
2015 StandoutNobel
WNT signaling in bone homeostasis and disease: from human mutations to treatments
2013 Standout
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
2014 Standout
Identification of Putative Target Genes of the Transcription Factor RUNX2
2013 StandoutNobel
Divergence and convergence of TGF‐β/BMP signaling
2001
Structural and Mutational Analysis of the SBDS Protein Family
2005
Wnt/β-Catenin Signaling and Disease
2012 Standout
Microfibrillar Proteins MAGP-1 and MAGP-2 Induce Notch1 Extracellular Domain Dissociation and Receptor Activation
2006
A Cell-Penetrating Scorpion Toxin Enables Mode-Specific Modulation of TRPA1 and Pain
2019 StandoutNobel
Towards a molecular understanding of hair loss and its treatment
2001
TRPV1 structures in distinct conformations reveal activation mechanisms
2013 StandoutNatureNobel
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study
2004
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia
2007
Remodelling the extracellular matrix in development and disease
2014 Standout
Growth Differentiation Factor 11 Is a Circulating Factor that Reverses Age-Related Cardiac Hypertrophy
2013 Standout
Structure of the TRPV1 ion channel determined by electron cryo-microscopy
2013 StandoutNatureNobel
TRPV1 structures in nanodiscs reveal mechanisms of ligand and lipid action
2016 StandoutNatureNobel
Structural snapshots of TRPV1 reveal mechanism of polymodal functionality
2021 StandoutNobel
T Cell Surveillance of Oncogene-Induced Prostate Cancer Is Impeded by T Cell-Derived TGF-β1 Cytokine
2011 StandoutNobel
Classic Selective Sweeps Revealed by Massive Sequencing in Cattle
2014 Standout
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
2004
Targeting TGFβ signaling in subchondral bone and articular cartilage homeostasis
2014
Mechanisms and Functions of Inflammasomes
2014 Standout
TGF-β and the TGF-β Family: Context-Dependent Roles in Cell and Tissue Physiology
2016 Standout
Chapter 13 Long‐Range Gene Control and Genetic Disease
2008
Treating inflammation by blocking interleukin-1 in a broad spectrum of diseases
2012
Mechanisms of Bone Metastasis
2004 Standout
The Canonical Notch Signaling Pathway: Unfolding the Activation Mechanism
2009 Standout
Genetic and Clinical Features of P450 Oxidoreductase Deficiency
2008
UDP-glucose accelerates SNAI1 mRNA decay and impairs lung cancer metastasis
2019 Nature
3β-Hydroxysterol Δ7-reductase and the Smith–Lemli–Opitz syndrome
2004
Spatial partitioning of the regulatory landscape of the X-inactivation centre
2012 StandoutNature
Wnt/β-Catenin Signaling, Disease, and Emerging Therapeutic Modalities
2017 Standout
Gene regulation by long non-coding RNAs and its biological functions
2020 Standout
RMRP Is a Non-Coding RNA Essential for Early Murine Development
2011
Pharmacogenetics of P450 oxidoreductase: effect of sequence variants on activities of CYP1A2 and CYP2C19
2008
MECHANISMS IN ENDOCRINOLOGY: Genetics of human bone formation
2017
Clinical, Genetic, and Enzymatic Characterization of P450 Oxidoreductase Deficiency in Four Patients
2009
Tumour stem cells and drug resistance
2005 Standout
Homozygous Mutation G539R in the Gene for P450 Oxidoreductase in a Family Previously Diagnosed as Having 17,20-Lyase Deficiency
2008
Integrity of the P-site is probed during maturation of the 60S ribosomal subunit
2012 StandoutNobel
A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)
2011
Apparent Manifesting Heterozygosity in P450 Oxidoreductase Deficiency and Its Effect on Coexisting 21-Hydroxylase Deficiency
2007
Making sense of latent TGFβ activation
2002
Cholesterol Metabolism: the Main Pathway Acting Downstream of Cytochrome P450 Oxidoreductase in Skeletal Development of the Limb
2009
A functionally specialized population of mucosal CD103+ DCs induces Foxp3+ regulatory T cells via a TGF-β– and retinoic acid–dependent mechanism
2007 Standout
Minireview: Regulation of Steroidogenesis by Electron Transfer
2005
High‐resolution structures of transient receptor potential vanilloid channels: Unveiling a functionally diverse group of ion channels
2020
Cryo-EM and X-ray structures of TRPV4 reveal insight into ion permeation and gating mechanisms
2018
Genetics of P450 oxidoreductase: Sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations
2008
Pleistocene North African genomes link Near Eastern and sub-Saharan African human populations
2018 StandoutScienceNobel
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
2011 Standout
Metabolic reprogramming and cancer progression
2020 StandoutScience
Magnetic Resonance Imaging Regional T1 Abnormalities at Term Accurately Predict Motor Outcome in Preterm Infants
2007
Progress in understanding 2‐hydroxyglutaric acidurias
2012
Signal Transduction Pathway through Activin Receptors as a Therapeutic Target of Musculoskeletal Diseases and Cancer
2008
Structural insight into TRPV5 channel function and modulation
2019 StandoutNobel
Protein Glycoengineering Enabled by the Versatile Synthesis of Aminooxy Glycans and the Genetically Encoded Aldehyde Tag
2011 StandoutNobel
Structural and Biochemical Consequences of Disease-Causing Mutations in the Ankyrin Repeat Domain of the Human TRPV4 Channel
2012
Structural insights into TRPM8 inhibition and desensitization
2019 StandoutScienceNobel
Lys49 myotoxin from the Brazilian lancehead pit viper elicits pain through regulated ATP release
2017 StandoutNobel
Urine Steroid Hormone Profile Analysis in Cytochrome P450 Oxidoreductase Deficiency: Implication for the Backdoor Pathway to Dihydrotestosterone
2006
Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management
2012 Standout
Regulation of Wound Healing by Growth Factors and Cytokines
2003 Standout
Physiology of Microglia
2011 Standout
Works of Gen Nishimura being referenced
Nosology and classification of genetic skeletal disorders: 2015 revision
2015
Martsolf syndrome in Japanese siblings
2007
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease
2000
De novo deletion of 1q24.3‐q31.2 in a patient with severe growth retardation
2010
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia
2011
Cytochrome P450 Oxidoreductase Deficiency in Three Patients Initially Regarded as Having 21-Hydroxylase Deficiency and/or Aromatase Deficiency: Diagnostic Value of Urine Steroid Hormone Analysis
2006
Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations
2010
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism
2018
TRPV4‐associated skeletal dysplasias
2012
TRPV4‐pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients
2012
TRPV4-pathy, a novel channelopathy affecting diverse systems
2010
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome
2004
The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva
2007
Nosology and classification of genetic skeletal disorders: 2010 revision
2011
Microdeletion in the SHOX 3′ region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri–Weill dyschondrosteosis in her 46,XX mother: Implication for the SHOX enhancer
2005
Effect of anakinra on arthropathy in CINCA/NOMID syndrome
2010
A new Ehlers–Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility‐related manifestations
2010
Increased expression of S100A4 and its prognostic significance in esophageal squamous cell carcinoma
2001
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human
2007
Ehlers–Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls
2005
Novel and recurrentEBP mutations in X-linked dominant chondrodysplasia punctata
2000
Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata
2003
Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome
2001
Whole‐exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D ‐2‐hydroxyglutaric aciduria (MC‐HGA)
2011
Camurati‐Engelmann disease type II: Progressive diaphyseal dysplasia with striations of the bones
2001
Cytochrome P450 Oxidoreductase Gene Mutations and Antley-Bixler Syndrome with Abnormal Genitalia and/or Impaired Steroidogenesis: Molecular and Clinical Studies in 10 Patients
2005
Skeletal Features and Growth Patterns in 14 Patients with Haploinsufficiency of SHOX: Implications for the Development of Turner Syndrome
1999
SHOX haploinsufficiency and overdosage: impact of gonadal function status
2001
A Male Patient Presenting with Major Clinical Symptoms of Glucocorticoid Deficiency and Skeletal Dysplasia, showing a Steroid Pattern Compatible with 17.ALPHA.-Hydroxylase/ 17, 20-Lyase Deficiency, but without Obvious CYP 17 Gene Mutations.
1999
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability
2007
MR imaging of perinatal brain damage: comparison of clinical outcome with initial and follow-up MR findings.
1999