Gene deletions in an infertile man with sperm fibrous sheath dysplasia

scientific article published on 24 June 2005

Gene deletions in an infertile man with sperm fibrous sheath dysplasia is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1093/HUMREP/DEI126
P698PubMed publication ID15980003
P5875ResearchGate publication ID7763806

P2093author name stringPiomboni P
Baccetti B
Moretti E
Collodel G
Estenoz M
Manca D
P2860cites workAn X-linked gene encodes a major human sperm fibrous sheath protein, hAKAP82. Genomic organization, protein kinase A-RII binding, and distribution of the precursor in the sperm tailQ22008029
Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failureQ24561845
Molecular evaluation of two major human sperm fibrous sheath proteins, pro-hAKAP82 and hAKAP82, in stump tail spermQ28209448
A-kinase anchoring protein 4 binding proteins in the fibrous sheath of the sperm flagellumQ28212220
Fibrous sheath of mammalian spermatozoaQ28574746
The Y chromosome and male fertility and infertilityQ35086923
Sperm pathology: a step beyond descriptive morphology. Origin, characterization and fertility potential of abnormal sperm phenotypes in infertile men.Q35593816
Multicolor fluorescence in situ hybridization analysis of aneuploidy and diploidy frequencies in 225,846 sperm from 10 normal men.Q40950937
10, 15 reciprocal translocation in an infertile man: ultrastructural and fluorescence in-situ hybridization sperm study: Case reportQ47415303
Full-term delivery following intracytoplasmic sperm injection with frozen-thawed immotile testicular spermatozoaQ48925409
Comparison of gonosomal aneuploidy in spermatozoa of normal fertile men and those with severe male factor detected by in-situ hybridization.Q50944202
Targeted disruption of the Akap4 gene causes defects in sperm flagellum and motility.Q52116313
EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004Q57592425
P433issue10
P407language of work or nameEnglishQ1860
P304page(s)2790-2794
P577publication date2005-06-24
P1433published inHuman ReproductionQ5937357
P1476titleGene deletions in an infertile man with sperm fibrous sheath dysplasia
P478volume20

Reverse relations

cites work (P2860)
Q48370354A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing.
Q35938711A frameshift mutation in ARMC3 is associated with a tail stump sperm defect in Swedish Red (Bos taurus) cattle
Q92725642Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice
Q44763427Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella
Q91575550EIF4G1 is a novel candidate gene associated with severe asthenozoospermia
Q88332577Expression pattern of prohibitin, capping actin protein of muscle Z-line beta subunit and tektin-2 gene in Murrah buffalo sperm and its relationship with sperm motility
Q47661228Formation and function of sperm tail structures in association with sperm motility defects
Q43850900From ultrastructural flagellar sperm defects to the health of babies conceived by ICSI.
Q64066097Genetic causes of male infertility: snapshot on morphological abnormalities of the sperm flagellum
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Q52330584Genetics of male infertility.
Q51543733Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese.
Q89685591Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF
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Q28587968Loss of R2D2 proteins ROPN1 and ROPN1L causes defects in murine sperm motility, phosphorylation, and fibrous sheath integrity
Q61118461Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella
Q30575866Mammalian Fused is essential for sperm head shaping and periaxonemal structure formation during spermatogenesis
Q39022091Meiotic segregation and sperm DNA fragmentation in Tunisian men with dysplasia of the fibrous sheath (DFS) associated with head abnormalities
Q36846121Mendelian genetics of male infertility
Q57806091Microtubular Dysfunction and Male Infertility
Q90540558Monogenic Forms of Male Infertility
Q42555839Morphological characteristics and initial genetic study of multiple morphological anomalies of the flagella in China
Q35816162Mutation analysis in patients with total sperm immotility
Q24314576Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia
Q47256029Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF).
Q49693707Polymorphisms/Mutations in A-Kinase Anchoring Proteins (AKAPs): Role in the Cardiovascular System
Q51747442Proteomic profile of human spermatozoa in healthy and asthenozoospermic individuals.
Q93129164Proteomics and single-cell RNA analysis of Akap4-knockout mice model confirm indispensable role of Akap4 in spermatogenesis
Q34099372Regulation of male fertility by X-linked genes
Q45716176SEMG1 may be the candidate gene for idiopathic asthenozoospermia
Q21134713SEPTIN12 genetic variants confer susceptibility to teratozoospermia
Q36642805Sperm morphology and aneuploidies: defects of supposed genetic origin
Q37074544Tales of the tail and sperm head aches: changing concepts on the prognostic significance of sperm pathologies affecting the head, neck and tail
Q28066065The axoneme: the propulsive engine of spermatozoa and cilia and associated ciliopathies leading to infertility
Q33329350The genetic basis of male reproductive failure
Q51665768Ultrastructural analysis of five patients with total sperm immotility.
Q39231764Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.

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