Associated Papers
The potential of deep learning on the discovery of new genes implicated in differences of sex development.
von der Decken I et al.
Computational and Structural Biotechnology Journal, 2026
The cryo-EM structure of mouse radial spoke 3 reveals a unique metabolic and regulatory hub in cilia.
Zhao Y et al.
Biorxiv : the Preprint Server for Biology, 2025
A novel homozygous splicing mutation in AK7 causes multiple morphological abnormalities of sperm flagella in patients from consanguineous Pakistani families.
Hussain A et al.
Asian Journal of Andrology, 2025
A novel homozygous splicing mutation in AK7 associated with multiple morphological abnormalities of the sperm flagella.
Greither T et al.
Asian Journal of Andrology, 2025
Identification of a Homozygous Mutation of CCDC40 in a Chinese Infertile Man with MMAF and PCD-like Phenotypes.
Liu Z et al.
Genetic Testing and Molecular Biomarkers, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
A-kinase anchoring proteins are enriched in the central pair microtubules of motile cilia in Chlamydomonas reinhardtii.
Rao VG et al.
Febs Letters, 2024
Deficiency in AK9 causes asthenozoospermia and male infertility by destabilising sperm nucleotide homeostasis.
Sha Y et al.
Ebiomedicine, 2023
Novel centriolar defects underlie a primary ciliary dyskinesia phenotype in an adenylate kinase 7 deficient ciliated epithelium.
Sheridan J et al.
Biorxiv : the Preprint Server for Biology, 2023
A novel homozygous missense mutation in AK7 causes multiple morphological anomalies of the flagella and oligoasthenoteratozoospermia.
Xiang M et al.
Journal of Assisted Reproduction and Genetics, 2022
Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders.
Oud MS et al.
Human Reproduction (oxford, England), 2021
The genetic architecture of morphological abnormalities of the sperm tail.
Touré A et al.
Human Genetics, 2021
Towards Post-Meiotic Sperm Production: Genetic Insight into Human Infertility from Mouse Models.
Azhar M et al.
International Journal of Biological Sciences, 2021
The Male Is Significantly Implicated as the Cause of Unexplained Infertility.
Aitken RJ
Seminars in Reproductive Medicine, 2020
Adenylate Kinase: A Ubiquitous Enzyme Correlated with Medical Conditions.
Ionescu MI
The Protein Journal, 2019
Corrigendum: Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.
Lorès P et al.
Human Molecular Genetics, 2019
A proposed nosology of inborn errors of metabolism.
Ferreira CR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.
Lorès P et al.
Human Molecular Genetics, 2018
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014