ERD

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

CiliaCarta: An integrated and validated compendium of ciliary genes

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of...

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Primary cilia–regulated transcriptome in the renal collecting duct

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal...

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and revie...

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive c erebellar, o cular, cranio f ...

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and propo...

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndro...

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Editorial: Genetic Kidney Diseases of Childhood

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Periodic Reporting for period 4 - TREATCilia (Novel Therapeutic Avenues for dynein-related Ciliopathies)

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Flow stimulates drug transport in a human kidney proximal tubule-on-a-chip independent of primary cilia

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Mole...

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Cilia in cystic kidney and other diseases

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Base editing derived models of human WDR34 and WDR60 disease alleles replicate retrograde IFT and hedgehog signaling def...

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Ciliary Dyneins and Dynein Related Ciliopathies

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Synd...

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying C...

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Project: TREATCilia

Updated at: 27-04-2024

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Project acronym TREATCilia

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Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

CiliaCarta: An integrated and validated compendium of ciliary genes

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of...

Primary cilia–regulated transcriptome in the renal collecting duct

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal...

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and revie...

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive c erebellar, o cular, cranio f ...

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and propo...

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndro...

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Editorial: Genetic Kidney Diseases of Childhood

Periodic Reporting for period 4 - TREATCilia (Novel Therapeutic Avenues for dynein-related Ciliopathies)

Flow stimulates drug transport in a human kidney proximal tubule-on-a-chip independent of primary cilia

Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Mole...

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

Cilia in cystic kidney and other diseases

Base editing derived models of human WDR34 and WDR60 disease alleles replicate retrograde IFT and hedgehog signaling def...

Ciliary Dyneins and Dynein Related Ciliopathies

A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Synd...

Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying C...

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination