Mahdi Malekpour's research while affiliated with Tehran University of Medical Sciences and other places

... This gene belongs to a family of cation channel that is specific to spermatozoa and localize to the flagellum hence role in the regulation of sperm motility. Deletion or mutation of CATSPER2 gene is associated with male infertility, mainly because of asthenoteratozoospermia or asthenoteratospermia (Avidan et al., 2003; Zhang et al., 2007) or because of failure in hyperactivated sperm motility before fertilization (Quill et al., 2003). One of our late maturation arrest (round spermatid stage) case had this gene deletion, but this CNV is also found in normal male CNV 10 Andrology, 1–13 © 2017 American Society of Andrology and European Academy of Andrology A. Halder et al. database (Redon et al., 2006 ), hence, unlikely aetiological association . ...

... To prevent and control severe thalassemia, the Ministry of Health of Iran has implemented a thalassemia screening program to diagnose thalassemia carrier parents for more than 20 years [9]. Previous studies have reported a broad spectrum of α-thalassemia mutations in different parts of Iran (especially Isfahan), and findings have shown that -α 3.7 (rightward deletion), α 5nt (-TGAGG), α 4.2 (leftward), the polyadenylation signal (polyA2) site (AATAAA4AATGAA), and --MED are the most common mutations found among Iranian patients from different origins [7,10,11]. As more than 5 million people live in Isfahan Province, and this Province has a heterogeneous population in the central region of Iran (Figure 1), it seems worthy to evaluate the frequency of these mutations in a regional platform. ...

... The study protocols were approved by the Medical Ethics Committee of Tehran University of Medical Sciences for two studies: Study I: Extraction of "Amir-A' lam Hospital Recommendation for Early Detection of GPA in Sinusitis [6]. ...

... 49,50 Mutation in this gene causes Kahrizi syndrome with ID, cataracts, coloboma, kyphosis, and coarse facial features in our cohort. 51 La Ribonucleoprotein 7 transcriptional regulator; LARP7 ...

... Transfections were performed as previously described [58][59][60]. miR-326 mimic and siHIF1A were transfected at 20 nM concentrations, then RNA or protein was isolated 48-h post-transfection. Reporter construct carrying the 3'-UTR of human ITGA5 (NM_002205) was transfected at a dose of 50 ng per well in 96-well experiment setup for the luciferase reporter assay experiments. ...

... Glomus tympanicum arises from the paraganglia of the middle ear [2], and given its location, it commonly presents with pulsatile tinnitus and conductive hearing loss, which is unlike our patient's presentation with sudden-onset hemoptysis and epistaxis [1,3]. This case report highlights the importance of physical examination in finding the large vascular mass, prompting further imaging with an MRI. ...

... This finding supports the results of several studies. 5,13,25,30,32 Deafness etiology is unknown in about 40% of all investigated cases of pediatric deafness. 33 In these patients, hearing loss is the only abnormality, and a majority of cases are likely to be nonsyndromic hearing loss of genetic origin, as testing for all the deafness genes is not routinely available and, ''most importantly, the responsible gene for almost 50 mapped loci has yet to be identified, and there are undoubtedly more loci to be discovered.'' ...

... DFNA5 is a form of autosomal dominant non-syndromic sensorineural hearing loss that arises via a gain-of-function mechanism related to the Gasdermin E gene (GSDME). Interestingly, Gsdme knockout mice exhibit normal hearing (Van Laer et al., 2005), as do humans with whole gene deletion and truncation mutations in exon 5 (Dunø et al., 2004;Van Laer et al., 2007). Every pathogenic GSDME mutation identified thus far has been found to cause exon 8 skipping. ...

... In the present study, among the 19 unique upregulated DEGs in the DE-PCOS group for the E2P4 vs. E2 comparison, androgen signaling (RARRES1) and altered fatty acid metabolism-related genes (EGR2 and FABP5) were upregulated, which is consistent with earlier findings in PCOS women (Tsai et al., 2020;Wickenheisser et al., 2005;Zhou, Cheng et al., 2013). In addition, the transporter genes crucial for mitochondrial function (CKMT1B, ABCB1/MDR1) (Clark et al., 2019;Zhang et al., 2009) and a well-known mediator of the P4 signaling cascade (HHIP) (Hu et al., 2018;Lee et al., 2006) had been found to be downregulated in eSC PCOS . In line with our study, the concept of P4 resistance and mitochondrial dysfunction in the PCOS endometrium is also supported by a recent study using PCOS-like animal models, where DHT exposure during pregnancy result in the impairment of the endometrial P4 effect, decidualization, and mitochondrial function (Hu et al., 2019;Piltonen et al., 2015;Risal et al., 2019). ...

... 3 The 4 th , 5 th and 6 th Economic, Social and Cultural Development Plans of Iran endorsed the implementation of referral system and FP as essential steps for the Iranian health system. 9 Many policy makers believed that the optimal and comprehensive implementation of FP policy may have a considerable role in public health promotion, social equity development and establishing a universal health care system. 9 FP and referral system were included in the 5 th development plan of Iran in 2004. ...