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Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice

American journal of human genetics, 2019-04, Vol.104 (4), p.738-748

2019

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Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse

Human molecular genetics, 2021-10, Vol.30 (21), p.1996-2011

2021

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DNALI1 deficiency causes male infertility with severe asthenozoospermia in humans and mice by disrupting the assembly of the flagellar inner dynein arms and fibrous sheath

Cell death & disease, 2023-02, Vol.14 (2), p.127-127, Article 127

2023

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NLRC5 promotes endometrial carcinoma progression by regulating NF-κB pathway-mediated mismatch repair gene deficiency

Scientific reports, 2024-05, Vol.14 (1), p.12447-13, Article 12447

2024

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Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility

Journal of human genetics, 2019-01, Vol.64 (1), p.49-54

2019

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Homozygous SPAG6 variants can induce nonsyndromic asthenoteratozoospermia with severe MMAF

Reproductive biology and endocrinology, 2022-03, Vol.20 (1), p.41-41, Article 41

2022

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A novel homozygous mutation in WDR19 induces disorganization of microtubules in sperm flagella and nonsyndromic asthenoteratospermia

Journal of assisted reproduction and genetics, 2020-06, Vol.37 (6), p.1431-1439

2020

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Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermia

Reproductive biology and endocrinology, 2022-04, Vol.20 (1), p.63-63, Article 63

2022

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Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection

Journal of assisted reproduction and genetics, 2020-04, Vol.37 (4), p.829-840

2020

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A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome

Journal of assisted reproduction and genetics, 2021-04, Vol.38 (4), p.949-955

2021

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Maternal heterozygous mutation in CHEK1 leads to mitotic arrest in human zygotes

Protein & cell, 2022-02, Vol.13 (2), p.148-154

2022

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A novel homozygous missense mutation in AK7 causes multiple morphological anomalies of the flagella and oligoasthenoteratozoospermia

Journal of assisted reproduction and genetics, 2022-01, Vol.39 (1), p.261-266

2022

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Pathogenesis of acephalic spermatozoa syndrome caused by splicing mutation and de novo deletion in TSGA10

Journal of assisted reproduction and genetics, 2021-10, Vol.38 (10), p.2791-2799

2021

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Aberrant DNA methylation in the PAX2 promoter is associated with Müllerian duct anomalies

Archives of gynecology and obstetrics, 2020-06, Vol.301 (6), p.1455-1461

2020

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Analysis of copy number variations of WNT4 gene in a Chinese population with Müllerian anomalies

Orphanet journal of rare diseases, 2021-06, Vol.16 (1), p.258-258, Article 258

2021

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A homozygous nonsense mutation of PLCZ1 cause male infertility with oocyte activation deficiency

Journal of assisted reproduction and genetics, 2020-04, Vol.37 (4), p.821-828

2020

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Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial sheath malformations

Reproductive biology and endocrinology, 2022-01, Vol.20 (1), p.5-5, Article 5

2022

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Preimplantation genetic diagnosis for a carrier with m.3697G > A mitochondrial DNA mutation

Journal of assisted reproduction and genetics, 2021-12, Vol.38 (12), p.3251-3260

2021

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Rare homozygous mutation in TUBB8 associated with oocyte maturation defect-2 in a consanguineous mating family

Journal of ovarian research, 2020-04, Vol.13 (1), p.42-42, Article 42

2020

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A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens

Journal of assisted reproduction and genetics, 2020-06, Vol.37 (6), p.1421-1429

2020

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Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency

Journal of ovarian research, 2018-06, Vol.11 (1), p.48-48, Article 48

2018

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A novel mutation of HOXA11 in a patient with septate uterus

Orphanet journal of rare diseases, 2017-12, Vol.12 (1), p.178-178, Article 178

2017

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A novel homozygous nonsense ZP1 variant causes human female infertility associated with empty follicle syndrome (EFS)

Molecular genetics & genomic medicine, 2020-07, Vol.8 (7), p.e1269-n/a

2020

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Novel Mutations in X-Linked, USP26-Induced Asthenoteratozoospermia and Male Infertility

Cells (Basel, Switzerland), 2021-06, Vol.10 (7), p.1594

2021

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Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice

Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice

Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse

DNALI1 deficiency causes male infertility with severe asthenozoospermia in humans and mice by disrupting the assembly of the flagellar inner dynein arms and fibrous sheath

NLRC5 promotes endometrial carcinoma progression by regulating NF-κB pathway-mediated mismatch repair gene deficiency

Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility

Homozygous SPAG6 variants can induce nonsyndromic asthenoteratozoospermia with severe MMAF

A novel homozygous mutation in WDR19 induces disorganization of microtubules in sperm flagella and nonsyndromic asthenoteratospermia

Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermia

Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection

A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome

Maternal heterozygous mutation in CHEK1 leads to mitotic arrest in human zygotes

A novel homozygous missense mutation in AK7 causes multiple morphological anomalies of the flagella and oligoasthenoteratozoospermia

Pathogenesis of acephalic spermatozoa syndrome caused by splicing mutation and de novo deletion in TSGA10

Aberrant DNA methylation in the PAX2 promoter is associated with Müllerian duct anomalies

Analysis of copy number variations of WNT4 gene in a Chinese population with Müllerian anomalies

A homozygous nonsense mutation of PLCZ1 cause male infertility with oocyte activation deficiency

Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial sheath malformations

Preimplantation genetic diagnosis for a carrier with m.3697G > A mitochondrial DNA mutation

Rare homozygous mutation in TUBB8 associated with oocyte maturation defect-2 in a consanguineous mating family

A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens

Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency

A novel mutation of HOXA11 in a patient with septate uterus

A novel homozygous nonsense ZP1 variant causes human female infertility associated with empty follicle syndrome (EFS)

Novel Mutations in X-Linked, USP26-Induced Asthenoteratozoospermia and Male Infertility

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