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https://www.readbyqxmd.com/read/29325626/fragile-x-syndrome-and-fragile-x-associated-tremor-ataxia-syndrome
#1
Deborah A Hall, Elizabeth Berry-Kravis
Fragile X-associated disorders encompass several conditions, which are caused by expansion mutations in the fragile X mental retardation 1 (FMR1) gene. Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1. It is associated with developmental delay, autism spectrum disorder, and seizures. Fragile X-associated tremor/ataxia syndrome is a progressive neurodegenerative disease that occurs in premutation carriers of 55-200 CGG repeats in FMR1 and is characterized by kinetic tremor, gait ataxia, parkinsonism, executive dysfunction, and neuropathy...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29301952/the-deubiquitinase-otu5-regulates-root-responses-to-phosphate-starvation
#2
Der-Fen Suen, Yi-Hsiu Tsai, Ya-Tan Cheng, Ramalingam Radjacommare, Ram Nivas Ahirwar, Hongyong Fu, Wolfgang Schmidt
Phosphorus, taken up by plants as inorganic phosphate (Pi), is an essential but often growth-limiting mineral nutrient for plants. As part of an orchestrated response to improve its acquisition, insufficient Pi supply triggers alterations in root architecture and epidermal cell morphogenesis. Mutants defective in the expression of the OVARIAN TUMOR DOMAIN-CONTAINING DEUBIQUITINATING ENZYME5 (OTU5) exhibited a constitutive Pi deficiency root phenotype, comprising the formation of long and dense root hairs and attenuated primary root growth...
January 4, 2018: Plant Physiology
https://www.readbyqxmd.com/read/29299012/tremor-ataxia-syndrome-and-primary-ovarian-insufficiency-in-an-fmr1-premutation-carrier
#3
Wilmar Saldarriaga-Gil, Tatiana Rodriguez-Guerrero, Andres Fandiño-Losada, Julian Ramirez-Cheyne
Introduction: The FMR1 gene has four allelic variants according to the number of repeats of the CGG triplet. Premutation carriers with between 55 and 200 repeats are susceptible to developing pathologies such as tremor and ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) syndrome. Case description: The patient was a 53-year-old female farmer with severe tremor in the upper limbs at rest that worsens with movement, tremor in the jaw and tongue, and generalized cerebral atrophy...
September 30, 2017: Colombia Médica: CM
https://www.readbyqxmd.com/read/29297114/variation-analysis-of-pum1-gene-in-chinese-women-with-primary-ovarian-insufficiency
#4
Wei Luo, Hanni Ke, Ran Liu, Yingying Qin, Winifred Mak, Jinlong Ma, Shidou Zhao, Zi-Jiang Chen
Accumulating evidence has indicated that the genes involved in meiosis are highly correlated with ovarian function. Pumilio 1 (PUM1) is a RNA-binding protein which is involved in the meiotic process. It has been reported that the Pum1 knockout female mice displayed subfertility due to the decrease in primordial follicle pool. The aim of our study is to investigate whether variants of the PUM1 gene are responsible for primary ovarian insufficiency (POI) in Chinese women. We analyzed coding sequence and untranslated regions of the PUM1 gene in 196 Han Chinese women with non-syndromic POI and 192 controls...
January 3, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29289969/health-problems-in-females-carriers-of-premutation-in-the-fmr1-gene
#5
REVIEW
Małgorzata Zofia Lisik
Premutation in the FMR1 gene occur in the general population with an estimated prevalence 1 in 130-260 females and 1 in 250-810 males. Carriers of premutation are at risk of development of spectrum of neurological, psychiatric and immunological disorders in adulthood. Fragile X-associated disease caused by dynamic mutation (expansion of CGG repeats) can be divided into three disorders: FXS - Fragile X syndrome, FXPOI - Fragile X-associated primary ovarian insufficiency, FXTAS -Fragile X-associated tremor/ataxia syndrome, which can be present in few generations of one family...
October 29, 2017: Psychiatria Polska
https://www.readbyqxmd.com/read/29282649/correction-to-estrogen-based-hormone-therapy-in-women-with-primary-ovarian-insufficiency-a-systematic-review
#6
Nydia Burgos, Dahima Cintron, Paula Latortue-Albino, Valentina Serrano, Rene Rodriguez Gutierrez, Stephanie Faubion, Gabriela Spencer-Bonilla, Patricia J Erwin, Mohammad Hassan Murad
In the original publication, the given and family name of the author Mohammad Hassan Murad was incorrect. This has been corrected with this erratum.
December 28, 2017: Endocrine
https://www.readbyqxmd.com/read/29259781/fragile-x-syndrome-and-fragile-x-associated-disorders
#7
REVIEW
Akash Rajaratnam, Jasdeep Shergill, Maria Salcedo-Arellano, Wilmar Saldarriaga, Xianlai Duan, Randi Hagerman
Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A range of clinical involvement is also associated with the FMR1 premutation, including fragile X-associated tremor ataxia syndrome, fragile X-associated primary ovarian insufficiency, psychiatric problems, hypertension, migraines, and autoimmune problems...
2017: F1000Research
https://www.readbyqxmd.com/read/29258619/effects-of-low-intensity-pulsed-ultrasound-lipus-pretreated-human-amnion-derived-mesenchymal-stem-cell-had-msc-transplantation-on-primary-ovarian-insufficiency-in-rats
#8
Li Ling, Xiushan Feng, Tianqin Wei, Yan Wang, Yaping Wang, Wenqian Zhang, Lianli He, Ziling Wang, Qianru Zeng, Zhengai Xiong
BACKGROUND: Human amnion-derived mesenchymal stem cells (hAD-MSCs) have the features of mesenchymal stem cells (MSCs). Low-intensity pulsed ultrasound (LIPUS) can promote the expression of various growth factors and anti-inflammatory molecules that are necessary to keep the follicle growing and to reduce granulosa cell (GC) apoptosis in the ovary. This study aims to explore the effects of LIPUS-pretreated hAD-MSC transplantation on chemotherapy-induced primary ovarian insufficiency (POI) in rats...
December 19, 2017: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/29240891/primary-ovarian-insufficiency-and-azospermia-in-carriers-of-a-homozygous-psmc3ip-stop-gain-mutation
#9
Abdulmoein Eid Al-Agha, Ihab Abdulhamed Ahmed, Esther Nuebel, Mika Moriwaki, Barry Moore, Katherine A Peacock, Tim Mosbruger, Deborah W Neklason, Lynn B Jorde, Mark Yandell, Corrine K Welt
Context: The etiology of primary ovarian insufficiency (POI) remains unknown in a majority of cases. Objective: We sought to identify genes causing POI. Design: The study was a familial genetic study. Setting: The study was performed in two academic institutions. Patients: We identified a consanguineous Yemeni family in which 4 daughters had POI. A brother had azoospermia. Intervention: DNA was subjected to whole genome sequencing...
December 12, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29231814/a-homozygous-fancm-mutation-underlies-a-familial-case-of-non-syndromic-primary-ovarian-insufficiency
#10
Baptiste Fouquet, Patrycja Pawlikowska, Sandrine Caburet, Celine Guigon, Marika Mäkinen, Laura Tanner, Marja Hietala, Kaja Urbanska, Laura Bellutti, Bérangère Legois, Bettina Bessieres, Alain Gougeon, Alexandra Benachi, Gabriel Livera, Filippo Rosselli, Reiner A Veitia, Micheline Misrahi
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, leading to a truncated protein (p.Gln1701*). FANCM is a DNA-damage response gene whose heterozygous mutations predispose to breast cancer. Compared to the mother's cells, the patients' lymphocytes displayed higher levels of basal and mitomycin C (MMC)-induced chromosomal abnormalities. Their lymphoblasts were hypersensitive to MMC and MMC-induced monoubiquitination of FANCD2 was impaired...
December 12, 2017: ELife
https://www.readbyqxmd.com/read/29224376/regulation-of-follicle-growth-through-hormonal-factors-and-mechanical-cues-mediated-by-hippo-signaling-pathway
#11
Ikko Kawashima, Kazuhiro Kawamura
The ovary is an interesting organ that shows major structural changes within a short period of time during each reproductive cycle. Follicle development is controlled by local paracrine and systemic endocrine factors. Many hormonal and molecular analyses have been conducted to find the mechanisms underlying structural changes in ovaries, However, exact mechanisms still remain to be determined. Recent development of mechanobiology facilitates the understanding on the contribution of physical forces and changes in the mechanical properties of cells and tissues to physiology and pathophysiology...
December 9, 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29207017/a-common-african-variant-of-human-connexin%C3%A2-37-is-associated-with-caucasian-primary-ovarian-insufficiency-and-has-a-deleterious-effect-in%C3%A2-vitro
#12
Anne Bachelot, Jerome Gilleron, Geri Meduri, Mihelai Guberto, Jerome Dulon, Sylviane Boucherie, Philippe Touraine, Micheline Misrahi
Folliculogenesis requires communication between granulosa cells and oocytes, mediated by connexin-based gap junctions. Connexin 37 (Cx37)-deficient female mice are infertile. The present study assessed Cx37 deficiency in patients with primary ovarian insufficiency (POI). A candidate gene study was performed in patients and controls from the National Genotyping Center (Evry, France) including 58 Caucasian patients with idiopathic isolated POI and 142 Caucasian controls. Direct genomic sequencing of the coding regions of the GJA4 gene (encoding Cx37) was performed with the aim to identify a deleterious variant associated with POI and absent in ethnically matched controls...
November 16, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29179771/paracrine-effects-of-human-amniotic-epithelial-cells-protect-against-chemotherapy-induced-ovarian-damage
#13
Qiuwan Zhang, Shixia Bu, Junyan Sun, Minhua Xu, Xiaofen Yao, Kunyan He, Dongmei Lai
BACKGROUND: Human amniotic epithelial cells (hAECs) are attractive candidates for regenerative medical therapy, with the potential to replace deficient cells and improve functional recovery after injury. Previous studies have demonstrated that transplantation of hAECs effectively alleviate chemotherapy-induced ovarian damage via inhibiting granulose cells apoptosis in animal models of premature ovarian failure/insufficiency (POF/POI). However, the underlying molecular mechanism accounting for hAECs-mediated ovarian function recovery is not fully understood...
November 28, 2017: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/29177034/maximum-likelihood-approaches-reveal-signatures-of-positive-selection-in-bmp15-and-gdf9-genes-modulating-ovarian-function-in-mammalian-female-fertility
#14
Hafiz Ishfaq Ahmad, Guiqiong Liu, Xunping Jiang, Shishay Girmay Edallew, Teketay Wassie, Birhanu Tesema, Yu Yun, Liu Pan, Chenhui Liu, Yuqing Chong, Zhao Jia Yu, Han Jilong
Bone morphogenetic proteins (BMPs) and the growth factors (GDFs) play an important role in ovarian folliculogenesis and essential regulator of processes of numerous granulosa cells. BMP15 gene variations linked to various ovarian phenotypic consequences subject to the species, from infertility to improved prolificacy in sheep, primary ovarian insufficiency in women or associated with minor subfertility in mouse. To study the evolving role of BMP15 and GDF9, a phylogenetic analysis was performed. To find out the candidate gene associated with prolificacy in mammals, the nucleotide sequence of BMP15 and GDF9 genes was recognized under positive selection in various mammalian species...
November 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/29176793/menstrual-cycle-characteristics-of-young-females-with-occult-primary-ovarian-insufficiency-at-initial-diagnosis-and-one-year-follow-up-with-serum-amh-level-and-antral-follicle-count
#15
Yilmaz Guzel, Yilda Arzu Aba, Kayhan Yakin, Ozgur Oktem
Occult primary ovarian insufficiency (also known as incipient ovarian failure or diminished ovarian reserve) is defined as serum AMH level ≤1.1ng/mL in women under age 30. Limited data is available regarding the prevalence of occult POI, the preceding menstrual characteristics and its natural course in otherwise healthy young females. We aimed in this prospective observational study to determine the prevalence of occult POI in young females (< age 30) screened with serum AMH measurement; and analyze the patterns of change in their menstruation at initial assessment and one-year follow-up in relation to the changes in ovarian reserve quantitatively assessed with AMH and AFC...
2017: PloS One
https://www.readbyqxmd.com/read/29170104/unraveling-unusual-x-chromosome-patterns-during-fragile-x-syndrome-genetic-testing
#16
Gabriella Esposito, Maria Roberta Tremolaterra, Maria Savarese, Michele Spiniello, Maria Pia Patrizio, Barbara Lombardo, Lucio Pastore, Francesco Salvatore, Antonella Carsana
BACKGROUND: Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID). Together with fragile X-associated tremor and ataxia (FXTAS) and fragile X-associated premature ovarian failure (POF)/primary ovarian insufficiency (POI), depends on dysfunctional expression of the FMR1 gene on Xq27.3. In most cases, FXS is caused by a >200 CGG repeats in FMR1 5'-untranslated region (UTR) and by promoter hypermethylation that results in gene silencing. Males and females with unmethylated premutated alleles (repeats between 55 and 200) are at risk for FXTAS and POF/POI...
November 20, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29169851/a-novel-homozygous-mutation-of-bone-morphogenetic-protein-15-identified-in-a-consanguineous-marriage-family-with-primary-ovarian-insufficiency
#17
Wei Zhang, Jing Wang, Xi Wang, Lin Li, Hong Pan, Beili Chen, Ying Zhu, Tengyan Li, Yunxia Cao, Binbin Wang
The aim of this study was to explore the pathogenic gene in a primary ovarian insufficiency (POI) patient from a consanguineous marriage family. The proband and her healthy mother were selected for whole-exome sequencing. By applying a strict filtering strategy, we found a novel homozygous missense mutation, c.G1070A (p.C357Y), of BMP15 in the proband, whereas her mother was heterozygous for this mutation. The mutation was highly conserved among species and predicted to be disorder causing. This study has revealed a novel homozygous mutation of the BMP15 gene that may be associated with POI...
October 26, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29157895/a-novel-homozygous-mutation-in-the-fshr-gene-is-causative-for-primary-ovarian-insufficiency
#18
Hongli Liu, Xiaofei Xu, Ting Han, Lei Yan, Lei Cheng, Yingying Qin, Wen Liu, Shidou Zhao, Zi-Jiang Chen
OBJECTIVE: To identify the potential FSHR mutation in a Chinese woman with primary ovarian insufficiency (POI). DESIGN: Genetic and functional studies. SETTING: University-based reproductive medicine center. PATIENT(S): A POI patient, her family members, and another 192 control women with regular menstruation. INTERVENTION(S): Ovarian biopsy was performed in the patient. Sanger sequencing was carried out for the patient, her sister, and parents...
November 18, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/29117655/genetic-etiology-of-primary-premature-ovarian-insufficiency
#19
Maja Franić-Ivanišević, Damir Franić, Miomira Ivović, Milina Tančić-Gajić, Ljiljana Marina, Marija Barac, Svetlana Vujović
Primary premature ovarian insufficiency (PPOI) is characterized by hypergonadotropic amenorrhea and hypoestrogenism in women under 40 years of age. PPOI incidence is 1:10,000 in women aged 18-25, 1:1000 in women aged 25-30 and 1:100 in women aged 35-40. In 10%-28% of cases, PPOI causes primary and in 4%-18% secondary amenorrhea. The process is a consequence of accelerated oocyte atresia, diminished number of germinated cells, and central nervous system aging. Specific genes are responsible for the control of oocyte number undergoing the ovulation process and the time to cessation of the reproductive function...
December 2016: Acta Clinica Croatica
https://www.readbyqxmd.com/read/29067983/occurrence-patterns-predictors-of-hypogonadism-in-patients-with-hiv-infection-in-india
#20
Deep Dutta, Lokesh Kumar Sharma, Neera Sharma, Adesh K Gadpayle, Atul Anand, Kumar Gaurav, Ankit Gupta, Yashwanth Poondla, Bindu Kulshreshtha
BACKGROUND & OBJECTIVES: Data on hypogonadism among human immunodeficiency virus (HIV)-infected Indians are not available. This study was aimed to evaluate the occurrence, pattern and predictors of hypogonadism in HIV-infected Indians. METHODS: Consecutive stable HIV-infected patients, 18-70 yr age, without any severe comorbid state, having at least one year follow up data at the antiretroviral therapy clinic, underwent clinical assessment and hormone assays. RESULTS: From initially screened 527 patients, 359 patients (225 males; 134 females), having disease duration of 61...
June 2017: Indian Journal of Medical Research
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