Case Report: Balanced Reciprocal Translocation t (17; 22) (p11.2; q11.2) and 10q23.31 Microduplication in an Infertile Male Patient Suffering From Teratozoospermia

A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis

(2021) Karen M. Knapp et al.   European Journal of Medical Genetics

Generation and Characterization of a CRISPR/Cas9-Mediated SNAP29 Knockout in Human Fibroblasts

(2021) Marie Christine Martens et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Coiled-Coil Domain-Containing (CCDC) Proteins: Functional Roles in General and Male Reproductive Physiology

(2021) Patra Priyadarshini Priyanka et al.   Reproductive Sciences

LINC00261: a burgeoning long noncoding RNA related to cancer

(2021) Menggang Zhang et al.   Cancer Cell International

Overexpression of Flii during Murine Embryonic Development Increases Symmetrical Division of Epidermal Progenitor Cells

(2021) Gink N. Yang et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Polyubiquitin gene Ubb is required for upregulation of Piwi protein level during mouse testis development

(2021) Bitnara Han et al.   Cell Death Discovery

The biological function of m6A demethylase ALKBH5 and its role in human disease

(2020) Jinyan Wang et al.   Cancer Cell International

LLGL1 Regulates Gemcitabine Resistance by Modulating ERK-SP1-OSMR Pathway in Pancreatic Ductal Adenocarcinoma

(2020) Yin-Xin Zhu et al.   Cellular and Molecular Gastroenterology and Hepatology

Male infertility

(2020) Ashok Agarwal et al.   LANCET

Expression of Cell Division Cycle Protein 45 in Tissue Microarrays and the CDC45 Gene by Bioinformatics Analysis in Human Hepatocellular Carcinoma and Patient Outcomes

(2020) Hui-Ping Lu et al.   MEDICAL SCIENCE MONITOR

Kinesin family member 20B regulates tongue cancer progression by promoting cell proliferation

(2019) Zhang‑Yi Li et al.   Molecular Medicine Reports

Analysis of functional hub genes identifies CDC45 as an oncogene in non-small cell lung cancer - a short report

(2019) Jianbing Huang et al.   CELLULAR ONCOLOGY

Long noncoding RNA CCDC144NL-AS1 knockdown induces naïve-like state conversion of human pluripotent stem cells

(2019) Yingying Wang et al.   Stem Cell Research & Therapy

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

(2019) Marta Unolt et al.   GENETICS IN MEDICINE

The neXtProt knowledgebase in 2020: data, tools and usability improvements

(2019) Monique Zahn-Zabal et al.   NUCLEIC ACIDS RESEARCH

Proteomic Analysis Reveals that Topoisomerase 2A is Associated with Defective Sperm Head Morphology

(2019) Jacob Netherton et al.   MOLECULAR & CELLULAR PROTEOMICS

Ess2 bridges transcriptional regulators and spliceosomal complexes via distinct interacting domains

(2018) Ichiro Takada et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Transposable elements: genome innovation, chromosome diversity, and centromere conflict

(2018) Savannah J. Klein et al.   CHROMOSOME RESEARCH

Genetic intersection of male infertility and cancer

(2018) Liina Nagirnaja et al.   FERTILITY AND STERILITY

Microduplication of 10q26.3 in a Chinese hypertriglyceridemia patient

(2018) Jing-Jing Li et al.   MOLECULAR AND CELLULAR PROBES

Kinesin-6 KIF20B is required for efficient cytokinetic furrowing and timely abscission in human cells

(2018) Kerstin M. Janisch et al.   MOLECULAR BIOLOGY OF THE CELL

Genetics of male infertility

(2018) Csilla Krausz et al.   Nature Reviews Urology

GeneMANIA update 2018

(2018) Max Franz et al.   NUCLEIC ACIDS RESEARCH

ALKBH5-dependent m6A demethylation controls splicing and stability of long 3′-UTR mRNAs in male germ cells

(2017) Chong Tang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ancient Traces of Tailless Retropseudogenes in Therian Genomes

(2015) Angela Noll et al.   Genome Biology and Evolution

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

(2015) Alistair T. Pagnamenta et al.   HUMAN MOLECULAR GENETICS

DRC3 connects the N-DRC to dynein g to regulate flagellar waveform

(2015) Junya Awata et al.   MOLECULAR BIOLOGY OF THE CELL

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

MPHOSPH1: A Potential Therapeutic Target for Hepatocellular Carcinoma

(2014) X. Liu et al.   CANCER RESEARCH

Mutations inSPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

(2014) Paul Kruszka et al.   JOURNAL OF MEDICAL GENETICS

Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation

(2013) Li Dai et al.   BMC Medical Genetics

p53-dependent regulation of metabolic function through transcriptional activation of pantothenate kinase-1 gene

(2013) Shang-Jui Wang et al.   CELL CYCLE

Phenotypic variability of atypical 22q11.2 deletions not includingTBX1

(2012) Judith M.A. Verhagen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ALKBH5 Is a Mammalian RNA Demethylase that Impacts RNA Metabolism and Mouse Fertility

(2012) Guanqun Zheng et al.   MOLECULAR CELL

Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting

(2011) Irfan Saadi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TOP3A, a new partner gene fused to MLL in an adult patient with de novo acute myeloid leukaemia

(2011) Charles Herbaux et al.   BRITISH JOURNAL OF HAEMATOLOGY

MITOPLD Is a Mitochondrial Protein Essential for Nuage Formation and piRNA Biogenesis in the Mouse Germline

(2011) Toshiaki Watanabe et al.   DEVELOPMENTAL CELL

Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: the Mayo Clinic experience

(2011) Sean E. Hofherr et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Function of COP9 Signalosome in Regulation of Mouse Oocytes Meiosis by Regulating MPF Activity and Securing Degradation

(2011) Eunju Kim et al.   PLoS One

Complex chromosomal rearrangements in infertile males: complexity of rearrangement affects spermatogenesis

(2010) Ji Won Kim et al.   FERTILITY AND STERILITY

Kinase-Inactivated ULK Proteins Inhibit Autophagy via Their Conserved C-Terminal Domains Using an Atg13-Independent Mechanism

(2008) E. Y. W. Chan et al.   MOLECULAR AND CELLULAR BIOLOGY