Results 111 to 120 of about 1,409,358 (284)

The prevalence of SMN gene deletion/duplication in spinal muscular atrophy families referred to neuro-genetic centers of Mashhad, Iran

Egyptian Journal of Medical Human Genetics
Background Spinal muscular atrophy (SMA) is a group of motor neuron diseases. In 95% of SMA patients, the telomeric copy of the SMN gene (SMN1) is homozygously deleted.
Mohammad Shariati, Alireza Davoudi, Reza Boostani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Nafiseh Todarbary, Javad Akhondian, Narges Hashemi, Ariane Sadr-Nabavi   +8 more
doaj   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

A Blessed Event: How Intended Parents Conceptualize Transnational Surrogacy [PDF]

, 2018
This study analyzes the language intended parents (IP) use when they disclose their plans to have a child through surrogacy to their friends and family.
Stoeger, Elizabeth L.
core   +1 more source

TP53BP2 Promotes Placental Autophagy and Preeclampsia via G9a and DNMT1 Cooperatively Modulating E2F1

Advanced Science, EarlyView.
G9a, and DNA Methyltransferase1 (DNMT1) cooperatively modulates E2F1 on the promoter of tumor suppressor p53‐binding protein 2 (TP53BP2) increased autophagy in preeclampsia. TP53BP2 promotes autophagy in trophoblasts through DNA methylation and H3K9me2‐mediated transcriptional regulation.
Nan Jiang, Shaoju Jin, Shaoying Wen, Wen Zeng, Chen Wang, Jingyu Wang, Qingyun Song, Guizhong Li, Pengzhi Yin, Yuhui Liao, Yuee Chai, Huiping Zhang, Shengchao Ma   +12 more
wiley   +1 more source

CD147/Basigin: From Integrative Molecular Hub to Translational Therapeutic Target

Advanced Science, EarlyView.
This review conceptualizes CD147 as a fundamental “Energy‐Structure Coupler,” physically bridging metabolic flux (via MCTs) with morphogenetic plasticity (via integrins/MMPs) to drive cancer, infection, and autoimmunity. Addressing the “specificity paradox” that limits current translation, the authors chart a strategic roadmap—spanning logic‐gated ...
Xiang‐Min Yang, Huijie Bian, Zhi‐Nan Chen   +2 more
wiley   +1 more source

Assessment of association between the Pro12Ala polymorphism of PPAR-γ gene with the risk of obstetric complications

Zaporožskij Medicinskij Žurnal, 2019
Aim – to determine the association between Pro12Ala polymorphism of PPAR-γ gene with the risk of obstetric complications. Materials and methods. A total of 97 women with normal prepregnancy weight, singleton pregnancy, delivery at 37 weeks or more and
S. O. Ostafiichuk
doaj   +1 more source

GENETIC TESTING DECISIONS IN GESTATIONAL CARRIER PREGNANCIES [PDF]

Fertility and Sterility, 2021
Melody A. Rasouli, Hailey E. Roberts, David N. Jackson   +2 more
openaire   +1 more source

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta [PDF]

, 2019
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder, mainly characterized by bone fragility and low bone mass. Defects in the type I procollagen-encoding genes account for the majority of OI, but increasingly more rare autosomal ...
Elcioglu, Nursel, Guillemyn, Brecht, Jagadeesh, Sujatha, Malfait, Fransiska, Nampoothiri, Sheela, Suresh, Beena, Symoens, Sofie, Turan, Serap, Yesodharan, Dhanya   +8 more
core   +1 more source

miR‐135a‐5p Is a Promising Target to Prevent the Glomerulosclerosis Associated with Podocyte Developmental Toxicity in Offspring Induced by Prenatal Dexamethasone Exposure

Advanced Science, EarlyView.
Prenatal dexamethasone exposure (PDE) programs persistent podocyte developmental injury and adult glomerulosclerosis. Mechanistically, glucocorticoid receptor (GR) binds the miR‐135a‐5p promoter and recruits the histone acetyltransferase p300, increasing promoter histone acetylation and sustaining miR‐135a‐5p expression. Elevated miR‐135a‐5p suppresses
Xiaoqi Zhao, Haiyun Chen, Yanan Zhu, Zhiping Xia, Hangyuan He, Yutang Liu, Tianshu Yang, Hui Wang, Ying Ao   +8 more
wiley   +1 more source

Risk factors of early spontaneous preterm birth despite carrying a cervical pessary in singleton pregnancies with a short cervix: Development of a risk prediction model

European Journal of Obstetrics & Gynecology and Reproductive Biology: X
: Introduction: We aimed to identify the incidence and risk factors of spontaneous preterm birth in pessary carriers with singleton pregnancies and a short cervix in the mid-trimester of pregnancy.
Carme Merced, Laia Pratcorona, Teresa Higueras, Mireia Vargas, Esther Del Barco, Judit Solà, Elena Carreras, Maria Goya   +7 more
doaj   +1 more source