Beyond Mendel: an evolving view of human genetic disease transmission (Q34932051)

5 August 2017

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title

Beyond Mendel: an evolving view of human genetic disease transmission (English)

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5 August 2017

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2

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5 August 2017

Jose L Badano

1

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publication date

1 October 2002

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5 August 2017

published in

Nature Reviews Genetics

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5 August 2017

volume

3

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5 August 2017

issue

10

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5 August 2017

page(s)

779-789

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Monogenic traits are not simple: lessons from phenylketonuria

5 August 2017

cites work

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Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

31 March 2020

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Modifier genes convert "simple" Mendelian disorders to complex traits

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Is there a paradigm shift in genetics? Lessons from the study of human diseases

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The introduction of newborn screening for phenylketonuria. A personal history

31 March 2020

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Whatever happened to PKU?

31 March 2020

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Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

31 March 2020

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Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population

31 March 2020

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Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker.

31 March 2020

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Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

31 March 2020

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Modifier genes and variation in cystic fibrosis

31 March 2020

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Genotype-phenotype relationships in cystic fibrosis

31 March 2020

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Modifier genes in mice and humans

31 March 2020

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Genotype and phenotype in cystic fibrosis

31 March 2020

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Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13.

31 March 2020

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Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor

31 March 2020

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TGF-beta(1) genotype and accelerated decline in lung function of patients with cystic fibrosis

31 March 2020

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Contribution of genetic factors other than CFTR to disease severity in cystic fibrosis

31 March 2020

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HLA class II polymorphism in cystic fibrosis. A possible modifier of pulmonary phenotype

31 March 2020

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Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis

31 March 2020

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Airway nitric oxide levels in cystic fibrosis patients are related to a polymorphism in the neuronal nitric oxide synthase gene

31 March 2020

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Cystic fibrosis mice lacking Muc1 have reduced amounts of intestinal mucus

31 March 2020

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Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population

31 March 2020

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Variant cystic fibrosis phenotypes in the absence of CFTR mutations

31 March 2020

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Life's irreducible structure. Live mechanisms and information in DNA are boundary conditions with a sequence of boundaries above them

31 March 2020

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Maneuvering in the complex path from genotype to phenotype

31 March 2020

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Schizophrenia: diverse approaches to a complex disease

31 March 2020

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Familial amyotrophic lateral sclerosis

31 March 2020

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Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene

31 March 2020

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A null mutation in the human CNTF gene is not causally related to neurological diseases

31 March 2020

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Multiple intestinal neoplasia caused by a mutation in the murine homolog of the APC gene

31 March 2020

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The Min (multiple intestinal neoplasia) mutation: its effect on gut epithelial cell differentiation and interaction with a modifier system

31 March 2020

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A dominant mutation that predisposes to multiple intestinal neoplasia in the mouse

31 March 2020

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Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse

31 March 2020

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Fat (fat) and tubby (tub): two autosomal recessive mutations causing obesity syndromes in the mouse

31 March 2020

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A candidate gene for the mouse mutation tubby

31 March 2020

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Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family

31 March 2020

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Genetic modification of hearing in tubby mice: evidence for the existence of a major gene (moth1) which protects tubby mice from hearing loss

31 March 2020

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Microtubule-associated protein 1A is a modifier of tubby hearing (moth1).

31 March 2020

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Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

31 March 2020

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Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

31 March 2020

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Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

31 March 2020

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Mutations in MKKS cause Bardet-Biedl syndrome

31 March 2020

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Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci

31 March 2020

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Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

31 March 2020

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Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

31 March 2020

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Regression-based quantitative-trait-locus mapping in the 21st century

31 March 2020

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New strategies for identifying gene-gene interactions in hypertension

31 March 2020

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A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

31 March 2020

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Genetics of Hirschsprung disease

31 March 2020

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Hirschsprung disease, associated syndromes, and genetics: a review

31 March 2020

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A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10.

31 March 2020

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A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.

31 March 2020

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Segregation at three loci explains familial and population risk in Hirschsprung disease

31 March 2020

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A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

31 March 2020

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Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes

31 March 2020

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Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

31 March 2020

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Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients

31 March 2020

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NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

31 March 2020

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Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration

31 March 2020

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Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

31 March 2020

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BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

31 March 2020

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Identification of a gene that causes primary open angle glaucoma.

31 March 2020

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Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

31 March 2020

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Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

31 March 2020

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Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

31 March 2020

1 reference

Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia

31 March 2020

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Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene

31 March 2020

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Specificity of 17beta-oestradiol and benzo[a]pyrene oxidation by polymorphic human cytochrome P4501B1 variants substituted at residues 48, 119 and 432.

31 March 2020

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Catalytic properties of polymorphic human cytochrome P450 1B1 variants

31 March 2020

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Polymorphisms in P450 CYP1B1 affect the conversion of estradiol to the potentially carcinogenic metabolite 4-hydroxyestradiol

31 March 2020

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Subunit composition of the peripherin/rds-rom-1 disk rim complex from rod photoreceptors: hydrodynamic evidence for a tetrameric quaternary structure

31 March 2020

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Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis.

31 March 2020

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Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)

31 March 2020

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Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa

31 March 2020

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Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1.

31 March 2020

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Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin

31 March 2020

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Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

31 March 2020

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GDNF signalling through the Ret receptor tyrosine kinase

31 March 2020

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Characterization of a multicomponent receptor for GDNF.

31 March 2020

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Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

31 March 2020

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Mutations in the human Jagged1 gene are responsible for Alagille syndrome

31 March 2020

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Interacting genes identify interacting proteins involved in microtubule function in Drosophila

31 March 2020

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A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency

31 March 2020

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Functional organization of the yeast proteome by systematic analysis of protein complexes

31 March 2020

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Systematic identification of protein complexes in Saccharomyces cerevisiae by mass spectrometry

31 March 2020

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Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics

31 March 2020

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Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration

31 March 2020

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A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

31 March 2020

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Biochemical defects in ABCR protein variants associated with human retinopathies

31 March 2020

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Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.

31 March 2020

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A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

31 March 2020

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Dominant modifier DFNM1 suppresses recessive deafness DFNB26

31 March 2020

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Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance

31 March 2020

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Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family

31 March 2020

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Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

31 March 2020

1 reference

Fibrinogen Milano XII: a dysfunctional variant containing 2 amino acid substitutions, Aalpha R16C and gamma G165R.

31 March 2020

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Prospective analysis and classification of patients with cystinuria identified in a newborn screening program

31 March 2020

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Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy

31 March 2020

1 reference

The APCI1307K allele and breast cancer risk

31 March 2020

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Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics

31 March 2020

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Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus

31 March 2020

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A cholesterol-lowering gene maps to chromosome 13q.

31 March 2020

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Candidate locus for a nuclear modifier gene for maternally inherited deafness

31 March 2020

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MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations

31 March 2020

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Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1.

31 March 2020

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Mvwf, a dominant modifier of murine von Willebrand factor, results from altered lineage-specific expression of a glycosyltransferase

31 March 2020

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TGF-beta1 promotes microglial amyloid-beta clearance and reduces plaque burden in transgenic mice.

31 March 2020

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Suppression of intestinal polyposis in Apc delta716 knockout mice by inhibition of cyclooxygenase 2 (COX-2)

31 March 2020

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Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

31 March 2020

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31 March 2020

Identifiers

DOI

10.1038/NRG910

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Dimensions Publication ID

5 August 2017

1023355215

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