The isolation of disease genes by positional cloning

A compartmentalized phosphoinositide signaling axis at cilia is regulated by INPP5E to maintain cilia and promote Sonic Hedgehog medulloblastoma.

Oncogene·2017

Direct effects of Bmi1 on p53 protein stability inactivates oncoprotein stress responses in embryonal cancer precursor cells at tumor initiation.

Oncogene·2012

Canonical Notch signaling is not required for the growth of Hedgehog pathway-induced medulloblastoma.

Oncogene·2010

Sonic Hedgehog regulates Hes1 through a novel mechanism that is independent of canonical Notch pathway signalling.

Oncogene·2007

GFP-tagged CFTR transgene is functional in the G551D cystic fibrosis mouse colon.

The Journal of membrane biology·2003

G551D CF mice display an abnormal host response and have impaired clearance of Pseudomonas lung disease.

American journal of physiology. Lung cellular and molecular physiology·2001

Uneven Ground: Survival Differences Among Victorian Lung Cancer Patients by Location of Residence (2011-2023): A Retrospective Cohort Study.

The Medical journal of Australia·2026

Estimating Eligibility for GLP-1 Receptor Agonists for Chronic Weight Management and Cardiovascular Disease in Australia: Cross-Sectional Analysis of National Health Survey Data.

The Medical journal of Australia·2026

Watchful Waiting Compared With Immediate Antibiotics for Urban Aboriginal and Torres Strait Islander Children With Uncomplicated Acute Otitis Media (WATCH): A Non-Inferiority Randomised Controlled Trial.

The Medical journal of Australia·2026

A Rare Case of Storage Mite Anaphylaxis in Infancy.

The Medical journal of Australia·2026

The Impact of Heat and Bushfire Smoke on Health System Utilisation in Australia.

The Medical journal of Australia·2026

Unshrouding Social Determinants: A Case for Standardised Data in Australia's Health Information Ecosystem.

The Medical journal of Australia·2026

QTL mapping.

Genetics·2026

Genetic Insights Into Retinitis Pigmentosa: A De Novo RPGR Mutation in an Iranian-Azeri Family.

Case reports in ophthalmological medicine·2026

Altered thalamo-prefrontal synchrony dynamics during spatial working memory task performance in a SETD1A loss-of-function mouse model of schizophrenia predisposition.

Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology·2026

Newborn screening and biobanking for preventable genetic disorders in Mongolia: A developing country perspective.

Regenerative therapy·2026

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Italian journal of pediatrics·2026

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Diabetes·2026

Related Experiment Videos

The isolation of disease genes by positional cloning

Related Concept Videos

A compartmentalized phosphoinositide signaling axis at cilia is regulated by INPP5E to maintain cilia and promote Sonic Hedgehog medulloblastoma.

Direct effects of Bmi1 on p53 protein stability inactivates oncoprotein stress responses in embryonal cancer precursor cells at tumor initiation.

Canonical Notch signaling is not required for the growth of Hedgehog pathway-induced medulloblastoma.

Sonic Hedgehog regulates Hes1 through a novel mechanism that is independent of canonical Notch pathway signalling.

GFP-tagged CFTR transgene is functional in the G551D cystic fibrosis mouse colon.

G551D CF mice display an abnormal host response and have impaired clearance of Pseudomonas lung disease.

Uneven Ground: Survival Differences Among Victorian Lung Cancer Patients by Location of Residence (2011-2023): A Retrospective Cohort Study.

Estimating Eligibility for GLP-1 Receptor Agonists for Chronic Weight Management and Cardiovascular Disease in Australia: Cross-Sectional Analysis of National Health Survey Data.

Watchful Waiting Compared With Immediate Antibiotics for Urban Aboriginal and Torres Strait Islander Children With Uncomplicated Acute Otitis Media (WATCH): A Non-Inferiority Randomised Controlled Trial.

A Rare Case of Storage Mite Anaphylaxis in Infancy.

The Impact of Heat and Bushfire Smoke on Health System Utilisation in Australia.

Unshrouding Social Determinants: A Case for Standardised Data in Australia's Health Information Ecosystem.

QTL mapping.

Genetic Insights Into Retinitis Pigmentosa: A De Novo RPGR Mutation in an Iranian-Azeri Family.

Altered thalamo-prefrontal synchrony dynamics during spatial working memory task performance in a SETD1A loss-of-function mouse model of schizophrenia predisposition.

Newborn screening and biobanking for preventable genetic disorders in Mongolia: A developing country perspective.

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Related Experiment Videos

The isolation of disease genes by positional cloning

Related Concept Videos

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