LINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in Mice

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

(2014) Susanne Roosing et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The growth plate’s response to load is partially mediated by mechano-sensing via the chondrocytic primary cilium

(2014) Yoach Rais et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

A dynamic cell adhesion surface regulates tissue architecture in growth plate cartilage

(2014) S. M. Romereim et al.   DEVELOPMENT

Mutation ofPOC1Bin a Severe Syndromic Retinal Ciliopathy

(2014) Bodo B. Beck et al.   HUMAN MUTATION

Primary Immunodeficiency Caused by an Exonized Retroposed Gene Copy Inserted in theCYBBGene

(2014) Martin de Boer et al.   HUMAN MUTATION

Processed pseudogenes acquired somatically during cancer development

(2014) Susanna L. Cooke et al.   Nature Communications

Regulation of cell polarity in the cartilage growth plate and perichondrium of metacarpal elements by HOXD13 and WNT5A

(2013) Pia Kuss et al.   DEVELOPMENTAL BIOLOGY

Germline deletion of Cetn1 causes infertility in male mice

(2013) P. Avasthi et al.   JOURNAL OF CELL SCIENCE

A Method for WD40 Repeat Detection and Secondary Structure Prediction

(2013) Yang Wang et al.   PLoS One

Deficiency in Origin Licensing Proteins Impairs Cilia Formation: Implications for the Aetiology of Meier-Gorlin Syndrome

(2013) Tom Stiff et al.   PLoS Genetics

POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism

(2012) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation

(2012) Ofer Sarig et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Centrosomes, chromosome instability (CIN) and aneuploidy

(2012) Benjamin D Vitre et al.   CURRENT OPINION IN CELL BIOLOGY

MicroRNAs 221 and 222 regulate the undifferentiated state in mammalian male germ cells

(2012) Q.-E. Yang et al.   DEVELOPMENT

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

(2012) Sonja A de Munnik et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type

(2012) K. A. Geister et al.   HUMAN MOLECULAR GENETICS

Poc1A and Poc1B act together in human cells to ensure centriole integrity

(2012) Magali Venoux et al.   JOURNAL OF CELL SCIENCE

Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein

(2012) Andrew Dauber et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Towards a molecular architecture of centriole assembly

(2012) Pierre Gönczy   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The Germline Stem Cell Niche Unit in Mammalian Testes

(2012) Jon M. Oatley et al.   PHYSIOLOGICAL REVIEWS

Identifying the Hotspots on the Top Faces of WD40-Repeat Proteins from Their Primary Sequences by β-Bulges and DHSW Tetrads

(2012) Xian-Hui Wu et al.   PLoS One

Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome

(2012) Tomoo Ogi et al.   PLoS Genetics

The genomic landscape shaped by selection on transposable elements across 18 mouse strains

(2012) Christoffer Nellåker et al.   GENOME BIOLOGY

NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

(2011) Christian Thiel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nosology and classification of genetic skeletal disorders: 2010 revision

(2011) Matthew L. Warman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

LINE-1 Elements in Structural Variation and Disease

(2011) Christine R. Beck et al.   Annual Review of Genomics and Human Genetics

Primary cilia modulate Ihh signal transduction in response to hydrostatic loading of growth plate chondrocytes

(2011) Yvonne Y. Shao et al.   BONE

Sex determination and the control ofSox9expression in mammals

(2011) Susanne Jakob et al.   FEBS Journal

Mechanisms and pathways of growth failure in primordial dwarfism

(2011) A. Klingseisen et al.   GENES & DEVELOPMENT

Effect of localization, length and orientation of chondrocytic primary cilium on murine growth plate organization

(2011) Maria-Grazia Ascenzi et al.   JOURNAL OF THEORETICAL BIOLOGY

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

(2011) Duane L Guernsey et al.   NATURE GENETICS

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

(2011) Louise S Bicknell et al.   NATURE GENETICS

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

(2011) Louise S Bicknell et al.   NATURE GENETICS

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

(2011) P. Edery et al.   SCIENCE

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

(2011) H. He et al.   SCIENCE

CtIP Mutations Cause Seckel and Jawad Syndromes

(2011) Per Qvist et al.   PLoS Genetics

The Role of Primary Cilia in Mesenchymal Stem Cell Differentiation: A Pivotal Switch in Guiding Lineage Commitment

(2010) Padmaja Tummala et al.   Cellular and Molecular Bioengineering

The skeletal dysplasias

(2010) Deborah Krakow et al.   GENETICS IN MEDICINE

Novel CENPJ mutation causes Seckel syndrome

(2010) M. S. Al-Dosari et al.   JOURNAL OF MEDICAL GENETICS

Primary cilia organization reflects polarity in the growth plate and implies loss of polarity and mosaicism in osteochondroma

(2010) Carlos E de Andrea et al.   LABORATORY INVESTIGATION

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

(2010) Ersan Kalay et al.   NATURE GENETICS

Genetic Control of Bone Formation

(2009) Gerard Karsenty et al.   Annual Review of Cell and Developmental Biology

Beam hardening artifacts in micro-computed tomography scanning can be reduced by X-ray beam filtration and the resulting images can be used to accurately measure BMD

(2009) Jeffrey A. Meganck et al.   BONE

The Primary Cilium as a Complex Signaling Center

(2009) Nicolas F. Berbari et al.   CURRENT BIOLOGY

Noncanonical frizzled signaling regulates cell polarity of growth plate chondrocytes

(2009) Y. Li et al.   DEVELOPMENT

Basal body stability and ciliogenesis requires the conserved component Poc1

(2009) Chad G. Pearson et al.   JOURNAL OF CELL BIOLOGY

An Expressed Fgf4 Retrogene Is Associated with Breed-Defining Chondrodysplasia in Domestic Dogs

(2009) H. G. Parker et al.   SCIENCE

Generating transgenic mice from bacterial artificial chromosomes: transgenesis efficiency, integration and expression outcomes

(2009) Margaret L. Van Keuren et al.   TRANSGENIC RESEARCH

Regulation of Spermatogonial Stem Cell Self-Renewal in Mammals

(2008) Jon M. Oatley et al.   Annual Review of Cell and Developmental Biology

Molecular Architecture of the Centriole Proteome: The Conserved WD40 Domain Protein POC1 Is Required for Centriole Duplication and Length Control

(2008) Lani C. Keller et al.   MOLECULAR BIOLOGY OF THE CELL

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

(2008) A. Rauch et al.   SCIENCE