Disease: Oculodentodigital dysplasia dominant
- <em>GJA1</em> Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination
- A dominant connexin43 mutant does not have dominant effects on gap junction coupling in astrocytes
- A dominant loss-of-function GJA1 (Cx43) mutant impairs parturition in the mouse
- A family with oculodentodigital dysplasia
- A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia
- A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype
- A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features
- A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia
- A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis
- A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia
- A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly
- A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits
- A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia
- An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
- Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms
- Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature
- Calmodulin Directly Interacts with the Cx43 Carboxyl-Terminus and Cytoplasmic Loop Containing Three ODDD-Linked Mutants (M147T, R148Q, and T154A) that Retain α-Helical Structure, but Exhibit Loss-of-Function and Cellular Trafficking Defects
- Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia
- Clinical and genetic variability of oculodentodigital dysplasia
- Clinical Characteristics of Autosomal Dominant GJA1 Missense Mutation Linked to Oculodentodigital Dysplasia in a Korean Family
- Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease
- Cohesin mediates Esco2-dependent transcriptional regulation in a zebrafish regenerating fin model of Roberts Syndrome
- Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia
- Connexin43 Mutant Patient-Derived Induced Pluripotent Stem Cells Exhibit Altered Differentiation Potential
- Decidual angiogenesis and placental orientation are altered in mice heterozygous for a dominant loss-of-function Gja1 (connexin43) mutation
- Decreased levels of connexin43 result in impaired development of the mammary gland in a mouse model of oculodentodigital dysplasia
- Decreased levels of Cx43 gap junctions result in ameloblast dysregulation and enamel hypoplasia in Gja1Jrt/+ mice
- Deep neurological phenotyping in oculo-dento-digital syndrome
- Dental issues in lacrimo-auriculo-dento-digital syndrome: An autosomal dominant condition with clinical and genetic variability
- Dental management of oculodentodigital dysplasia: a case report
- Dental management of oculodentodigital dysplasia: report of case
- Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia
- Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia
- Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia
- Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family
- Fate of connexin43 in cardiac tissue harbouring a disease-linked connexin43 mutant
- Functional characterization of a GJA1 frameshift mutation causing oculodentodigital dysplasia and palmoplantar keratoderma
- Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia
- Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants
- Gap junctions in inherited human disorders of the central nervous system
- GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype
- Hair dysplasia in oculo-dento-digital syndrome. Apropos of a mother-daughter case
- Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?
- Hereditary glaucoma associated with oculodentodigital dysplasia
- Heterozygous <em>GJA1</em> variants with ocular phenotype: Missense in domain but truncation out of domain
- Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects
- Interrogation of Carboxy-Terminus Localized <em>GJA1</em> Variants Associated with Erythrokeratodermia Variabilis et Progressiva
- Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23
- Male reproductive system defects and subfertility in a mutant mouse model of oculodentodigital dysplasia
- Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients
- Myogenic bladder defects in mouse models of human oculodentodigital dysplasia
- Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?
- Neurological manifestations of the oculodentodigital dysplasia syndrome
- Neurological presentations of oculodentodigital dysplasia
- Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair
- Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD)
- Novel mutations in GJA1 in two Brazilian families with oculodentodigital dysplasia
- Oculo-dento-digital dysplasia (OMIM *164200). Full manifestation of the syndrome in a 9.5 year-old girl and type III syndactyly in the father
- OCULO-DENTO-DIGITAL DYSPLASIA IN A TUNISIAN FAMILY WITH A NOVEL GJA1 MUTATION
- Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging
- Oculo-dento-digital syndrome (Gorlin's syndrome): clinical and genetical report of a new family
- Oculodentodigital dysplasia
- Oculodentodigital dysplasia
- Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review
- Oculodentodigital dysplasia with cerebral white matter abnormalities in a two-generation family
- Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene
- Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43
- Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and a sibling
- Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation
- Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance
- Oculodentodigital dysplasia. A case report
- Oculodentodigital Syndrome with Syndactyly Type III in a Pakistani consanguineous family
- ODDD-linked Cx43 mutants reduce endogenous Cx43 expression and function in osteoblasts and inhibit late stage differentiation
- Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia
- Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43
- Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms
- Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia
- Structural assessment of PITX2, FOXC1, CYP1B1, and GJA1 genes in patients with Axenfeld-Rieger syndrome with developmental glaucoma
- Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia
- The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans
- The oculo-dento-digital syndrome: male-to-male transmission and variable expression in a family
- Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum
- Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum
- Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature