Multiple hits during early embryonic development: digenic diseases and holoprosencephaly (Q34978312)

5 August 2017

1 reference

title

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly (English)

1 reference

5 August 2017

1 reference

Maximilian Muenke

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5 August 2017

Jeffrey E Ming

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5 August 2017

language of work or name

English

0 references

publication date

22 October 2002

1 reference

American Journal of Human Genetics

5 August 2017

published in

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5 August 2017

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5 August 2017

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5 August 2017

page(s)

1017-1032

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Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

5 August 2017

cites work

1 reference

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8 July 2018

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8 July 2018

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

8 July 2018

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Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

8 July 2018

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Teratogenesis of holoprosencephaly

8 July 2018

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A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

8 July 2018

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

8 July 2018

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A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

8 July 2018

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Consequences of complexity within biological networks: robustness and health, or vulnerability and disease

8 July 2018

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

8 July 2018

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Update on the molecular genetics of retinitis pigmentosa

8 July 2018

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Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

8 July 2018

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SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature

8 July 2018

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Classification of left-right patterning defects in zebrafish, mice, and humans

8 July 2018

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Axis formation and patterning in zebrafish

8 July 2018

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

8 July 2018

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The molecular genetics of Bardet-Biedl syndrome

8 July 2018

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

8 July 2018

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Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination

8 July 2018

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Modifier genes in mice and humans

8 July 2018

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Principles for the buffering of genetic variation

8 July 2018

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Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease

8 July 2018

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Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents

8 July 2018

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Cholesterol modification of proteins

8 July 2018

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Genetics of Hirschsprung disease

8 July 2018

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Molecular properties of Zic proteins as transcriptional regulators and their relationship to GLI proteins

8 July 2018

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Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis.

8 July 2018

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Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma

8 July 2018

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Modifier genes convert "simple" Mendelian disorders to complex traits

8 July 2018

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

8 July 2018

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Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine

8 July 2018

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

8 July 2018

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Mutations in MKKS cause Bardet-Biedl syndrome

8 July 2018

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Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

8 July 2018

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Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

8 July 2018

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

8 July 2018

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Risk factors for cytogenetically normal holoprosencephaly in California: a population-based case-control study

8 July 2018

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The organizer factors Chordin and Noggin are required for mouse forebrain development

8 July 2018

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8 July 2018

Molecular "vitalism".

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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.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

8 July 2018

1 reference

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The type II activin receptors are essential for egg cylinder growth, gastrulation, and rostral head development in mice

8 July 2018

1 reference

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Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly

8 July 2018

1 reference

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Monogenic traits are not simple: lessons from phenylketonuria

8 July 2018

1 reference

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Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

8 July 2018

1 reference

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

8 July 2018

1 reference

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A Smad transcriptional corepressor

8 July 2018

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Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

8 July 2018

1 reference

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Ectopic bone morphogenetic proteins 5 and 4 in the chicken forebrain lead to cyclopia and holoprosencephaly

8 July 2018

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Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)

8 July 2018

1 reference

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Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

8 July 2018

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Human developmental disorders and the Sonic hedgehog pathway

8 July 2018

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Casting an eye over cyclopia

8 July 2018

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Holoprosencephaly: a paradigm for the complex genetics of brain development

8 July 2018

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

8 July 2018

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Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease

8 July 2018

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Smad2 role in mesoderm formation, left-right patterning and craniofacial development

8 July 2018

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Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

8 July 2018

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Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

8 July 2018

1 reference

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Patterning of the embryonic forebrain

8 July 2018

1 reference

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Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.

8 July 2018

1 reference

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Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Cooperation of BMP7 and SHH in the induction of forebrain ventral midline cells by prechordal mesoderm.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Sonic hedgehog participates in craniofacial morphogenesis and is down-regulated by teratogenic doses of retinoic acid

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

The expression of the mouse Zic1, Zic2, and Zic3 gene suggests an essential role for Zic genes in body pattern formation

8 July 2018

1 reference

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The one-eyed pinhead gene functions in mesoderm and endoderm formation in zebrafish and interacts with no tail

8 July 2018

1 reference

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Mutations affecting the development of the embryonic zebrafish brain

8 July 2018

1 reference

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Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients

8 July 2018

1 reference

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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Cholesterol modification of hedgehog signaling proteins in animal development

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Melanocyte-specific expression of the human tyrosinase promoter: activation by the microphthalmia gene product and role of the initiator.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

A novel zinc finger protein, zic, is involved in neurogenesis, especially in the cell lineage of cerebellar granule cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Defective myosin VIIA gene responsible for Usher syndrome type 1B

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Embryonic origin of holoprosencephaly: interrelationship of the developing brain and face

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Retinoic acid embryopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology

8 July 2018

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Holoprosencephaly as a possible embryonic alcohol effect

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Holoprosencephaly: birth data, benetic and demographic analyses of 30 families

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Teratogenic action and embryo lethality of AY 9944R: Prevention by a hypercholesterolemia-provoking diet

8 July 2018

1 reference

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Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Local retinoid signaling coordinates forebrain and facial morphogenesis by maintaining FGF8 and SHH.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Otx2 and HNF3beta genetically interact in anterior patterning.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Differential patterning of ventral midline cells by axial mesoderm is regulated by BMP7 and chordin.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Gli/Zic factors pattern the neural plate by defining domains of cell differentiation

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Holoprosencephaly: from Homer to Hedgehog

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Nodal signaling and axis formation in the mouse.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Positional cloning identifies zebrafish one-eyed pinhead as a permissive EGF-related ligand required during gastrulation

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Teratogenicity of low doses of all-trans retinoic acid in presomite mouse embryos.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Hershey heaven and Caenorhabditis elegans

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385082

Early subdivisions in the neural plate define distinct competence for inductive signals

9 December 2018

1 reference

12 December 2020

Hirschsprung's disease: dissecting complexity in a pathogenetic network

1 reference

12 December 2020

Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease

1 reference

12 December 2020

Teratogenic compounds of Veratrum californicum (Durand). V. Comparison of cyclopian effects of steroidal alkaloids from the plant and structurally related compounds from other sources

1 reference

12 December 2020

Holoprosencephaly in infants of diabetic mothers

1 reference

12 December 2020

Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism

1 reference

12 December 2020

Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1086/344412

1 reference

5 August 2017

1 reference

5 August 2017

1 reference