Bi-allelic recessive loss-of-function variants in FANCM cause non-obstructive azoospermia
Infertility affects around 7% of men worldwide. Idiopathic non-obstructive azoospermia
(NOA) is defined as the absence of spermatozoa in the ejaculate due to failed …
(NOA) is defined as the absence of spermatozoa in the ejaculate due to failed …
A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency
Primary Ovarian Insufficiency (POI) affects~ 1% of women under forty. Exome sequencing of
two Finnish sisters with non-syndromic POI revealed a homozygous mutation in FANCM …
two Finnish sisters with non-syndromic POI revealed a homozygous mutation in FANCM …
A homozygous FANCM frameshift pathogenic variant causes male infertility
Purpose Fanconi anemia (FA) genes play important roles in spermatogenesis. In mice,
disruption of Fancm impairs male fertility and testicular integrity, but whether FANCM …
disruption of Fancm impairs male fertility and testicular integrity, but whether FANCM …
Fancf‐deficient mice are prone to develop ovarian tumours
Fanconi anaemia (FA) is a rare recessive disorder marked by developmental abnormalities,
bone marrow failure, and a high risk for the development of leukaemia and solid tumours …
bone marrow failure, and a high risk for the development of leukaemia and solid tumours …
From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia
Purpose In about 10% of patients affected by Fanconi anemia (FA) the diagnosis is delayed
until adulthood, and the presenting symptom in these “occult” FA cases is often a solid …
until adulthood, and the presenting symptom in these “occult” FA cases is often a solid …
Rare variants in FANCA induce premature ovarian insufficiency
X Yang, X Zhang, J Jiao, F Zhang, Y Pan, Q Wang… - Human genetics, 2019 - Springer
Premature ovarian insufficiency (POI) is a major cause of reduced female fertility and affects
approximately 1% women under 40 years of age. Recent advances emphasize the genetic …
approximately 1% women under 40 years of age. Recent advances emphasize the genetic …
Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA
Background Spermatogenic impairments can lead to male infertility by different pathological
conditions, such as multiple morphological abnormalities of the sperm flagella (MMAF) and …
conditions, such as multiple morphological abnormalities of the sperm flagella (MMAF) and …
Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermia
Background Non-obstructive azoospermia (NOA) is the most severe type of male infertility,
affecting 1% of men worldwide. Most of its etiologies remain idiopathic. Although genetic …
affecting 1% of men worldwide. Most of its etiologies remain idiopathic. Although genetic …
FANCB is essential in the male germline and regulates H3K9 methylation on the sex chromosomes during meiosis
Y Kato, KG Alavattam, HS Sin, AR Meetei… - Human Molecular …, 2015 - academic.oup.com
Fanconi anemia (FA) is a recessive X-linked and autosomal genetic disease associated with
bone marrow failure and increased cancer, as well as severe germline defects such as …
bone marrow failure and increased cancer, as well as severe germline defects such as …
Fancm has dual roles in the limiting of meiotic crossovers and germ cell maintenance in mammals
Meiotic crossovers are required for accurate chromosome segregation and producing new
allelic combinations. Meiotic crossover numbers are tightly regulated within a narrow range …
allelic combinations. Meiotic crossover numbers are tightly regulated within a narrow range …