Genetics of human female infertility

SA Yatsenko, A Rajkovic - Biology of reproduction, 2019 - academic.oup.com
About 10% of women of reproductive age are unable to conceive or carry a pregnancy to
term. Female factors alone account for at least 35% of all infertility cases and comprise a …

A kaleidoscopic view of ovarian genes associated with premature ovarian insufficiency and senescence

Q Yang, S Mumusoglu, Y Qin, Y Sun… - The FASEB …, 2021 - Wiley Online Library
Ovarian infertility and subfertility presenting with premature ovarian insufficiency (POI) and
diminished ovarian reserve are major issues facing the developed world due to the trend of …

Premature ovarian insufficiency in CLPB deficiency: Transcriptomic, proteomic and phenotypic insights

EJ Tucker, MJ Baker, DH Hock… - The Journal of …, 2022 - academic.oup.com
Context Premature ovarian insufficiency (POI) is a common form of female infertility that
usually presents as an isolated condition but can be part of various genetic syndromes …

Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency

S Bakhshalizadeh, DH Hock, NA Siddall, BL Kline… - Human Genetics, 2023 - Springer
Premature ovarian insufficiency (POI) is a common cause of infertility in women,
characterised by amenorrhea and elevated FSH under the age of 40 years. In some cases …

Endocrinopathies in inborn errors of immunity

K Takasawa, H Kanegane, K Kashimada… - Frontiers in …, 2021 - frontiersin.org
Inborn errors of immunity (IEI), caused by hereditary or genetic defects, are a group of more
than 400 disorders, in which the immune system, including lymphocytes, neutrophils …

Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses

X Parisi, JR Bledsoe - Journal of Clinical Pathology, 2024 - jcp.bmj.com
The congenital neutropenia syndromes are rare haematological conditions defined by
impaired myeloid precursor differentiation or function. Patients are prone to severe infections …

HAX1‐related congenital neutropenia: Long‐term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia …

D Pogozhykh, D Yilmaz Karapinar… - British Journal of …, 2023 - Wiley Online Library
HAX1‐related congenital neutropenia (HAX1‐CN) is a rare autosomal recessive disorder
caused by pathogenic variants in the HAX1 gene. HAX1‐CN patients suffer from bone …

Bi‐allelic recessive loss‐of‐function mutations in FIGLA cause premature ovarian insufficiency with short stature

P Yuan, Z He, S Sun, Y Li, W Wang, X Liang… - Clinical …, 2019 - Wiley Online Library
Premature ovarian insufficiency (POI) is a group of heterogeneous disorders characterized
by decreased ovarian reserve and increased follicle stimulating hormone (FSH) levels. It is …

Kostmann syndrome with neurological abnormalities: a case report and literature review

B Lyu, W Lyu, X Zhang - Frontiers in Pediatrics, 2020 - frontiersin.org
Background: Severe congenital neutropenia (SCN), also known as Kostmann syndrome, is
a rare heterogeneous group of diseases characterized by arrested neutrophil maturation in …

[HTML][HTML] HAX-1 overexpression in gastric cancer promotes cell proliferation

S Gu, S Zhang, H Huang, Q Wang, H Fan… - Translational Cancer …, 2020 - ncbi.nlm.nih.gov
Background HAX-1 is involved in the regulation of cellular processes such as apoptosis,
proliferation and migration and is closely related to tumorigenesis and tumor metastasis …