No evidence for genetic heterogeneity in cystic fibrosis

Complex tools and motor-to-mechanical transformations.

Scientific reports·2022

SIAH ubiquitin ligases target the nonreceptor tyrosine kinase ACK1 for ubiquitinylation and proteasomal degradation.

Oncogene·2012

Ubiquitin conjugase UBCH8 targets active FMS-like tyrosine kinase 3 for proteasomal degradation.

Leukemia·2010

Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations.

Genetic testing·2002

Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31.

Genomics·2001

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

Nature genetics·2001

A highly prevalent lupus risk haplotype increases IRF7-dependent induction of IFN-α, enhancing antiviral defense and exacerbating autoimmunity.

American journal of human genetics·2026

CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes.

American journal of human genetics·2026

Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults.

American journal of human genetics·2026

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.

American journal of human genetics·2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

American journal of human genetics·2026

Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders.

American journal of human genetics·2026

Identification of the Novel HLA-DPB1*1965:01 Allele Using PacBio Sequencing Technology.

HLA·2026

Identification of the HLA-DQB1*03:626 Allele in Two Individuals in a Western Indian Family.

HLA·2026

Sporadic Retinal Astrocytic Hamartoma Mimicking Retinoblastoma in a Child: A Case Report and Literature Review.

Clinical case reports·2026

Primary Care Recognition of Rabson-Mendenhall Syndrome Despite Absence of Classical Diabetic Symptoms.

The American journal of case reports·2026

Characterisation of the Novel HLA-A*32:207 Allele by Sequencing-Based Typing.

HLA·2026

Discovery of the Novel HLA-DQB1*05:386 Allele in a Brazilian Volunteer Donor.

HLA·2026

Related Experiment Videos

No evidence for genetic heterogeneity in cystic fibrosis

Related Concept Videos

Complex tools and motor-to-mechanical transformations.

SIAH ubiquitin ligases target the nonreceptor tyrosine kinase ACK1 for ubiquitinylation and proteasomal degradation.

Ubiquitin conjugase UBCH8 targets active FMS-like tyrosine kinase 3 for proteasomal degradation.

Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations.

Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31.

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

A highly prevalent lupus risk haplotype increases IRF7-dependent induction of IFN-α, enhancing antiviral defense and exacerbating autoimmunity.

CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes.

Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults.

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders.

Identification of the Novel HLA-DPB1*1965:01 Allele Using PacBio Sequencing Technology.

Identification of the HLA-DQB1*03:626 Allele in Two Individuals in a Western Indian Family.

Sporadic Retinal Astrocytic Hamartoma Mimicking Retinoblastoma in a Child: A Case Report and Literature Review.

Primary Care Recognition of Rabson-Mendenhall Syndrome Despite Absence of Classical Diabetic Symptoms.

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No evidence for genetic heterogeneity in cystic fibrosis

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