Z. Abdelhamed

发表

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Colin A. Johnson, D. Bonthron, F. Muntoni, 2011, Nature Genetics.

Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants

D. Prows, W. Gibbons, J. Snedeker, 2019, PLoS genetics.

Characterization of Primary Cilia in Normal Fallopian Tube Epithelium and Serous Tubal Intraepithelial Carcinoma

Colin A. Johnson, Tian-Li Wang, S. Bell, 2018, International Journal of Gynecologic Cancer.

The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5

Colin A. Johnson, C. Inglehearn, C. Toomes, 2019, Scientific Reports.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Colin A. Johnson, Teunis J. P. van Dam, J. Shendure, 2015, Nature Cell Biology.

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

Colin A. Johnson, G. Taylor, M. Mohamed, 2011, Human molecular genetics.

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.

Colin A. Johnson, C. Inglehearn, C. Toomes, 2013, Human molecular genetics.

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Colin A. Johnson, M. Hurles, D. Bonthron, 2013, Nature Genetics.

Correction: A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

H. Omran, R. Stottmann, Z. Abdelhamed, 2021, Disease Models & Mechanisms.

A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

H. Omran, R. Stottmann, Z. Abdelhamed, 2020, Disease Models & Mechanisms.

A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

H. Omran, R. Stottmann, Z. Abdelhamed, 2020, bioRxiv.

IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment.

Colin A. Johnson, G. Pazour, R. Francis, 2014, Developmental cell.

SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.

Colin A. Johnson, D. Bonthron, C. Stumpel, 2013, American journal of human genetics.

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.

Colin A. Johnson, G. Taylor, J. Craig, 2011, American journal of human genetics.

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin

M. Bonin, M. McKibbin, C. Inglehearn, 2015, Molecular vision.

Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome.

Colin A. Johnson, C. Inglehearn, C. Toomes, 2013, Developmental biology.

Proceedings of the Second International Cilia in Development and Disease Scientific Conference

R. Roepman, N. Sorusch, U. Wolfrum, 2015 .

A meckelin-filamin A interaction mediates ciliogenesis.

Colin A. Johnson, S. Cross, K. Gull, 2012, Human molecular genetics.

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway

Colin A. Johnson, D. Jagger, C. Inglehearn, 2015, Disease Models & Mechanisms.

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.

Colin A. Johnson, Eamonn Sheridan, Carmel Toomes, 2015, American journal of human genetics.

A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice

D. Beier, J. Goto, F. Mangano, 2018, Development.

A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes

R. Roepman, N. Sorusch, U. Wolfrum, 2015, Cilia.

Differential requirements of tubulin genes in mammalian forebrain development

D. Beier, H. Saal, A. Timms, 2018, bioRxiv.

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

C. Logan, J. Cossins, S. Jayawant, 2015, American journal of human genetics.