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Contents 1

(The) relationship between common mutations in CFTR, AR genes, Y chromosome microdeletions and karyotyping abnormalities with very severe oligozoospermia in Iranian men / Leyla Jafari ; Kyumars Safinejad ; Mahboobeh Nasiri ; Mansour Heidari ; Massoud Houshmand 1

Abstract 1

Introduction 1

Materials and methods 2

Results 5

Case reports 7

Discussion 7

Conclusions 10

Author contributions 10

References 10

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권호기사 목록 테이블로 기사명, 저자명, 페이지, 원문, 기사목차 순으로 되어있습니다.
기사명 저자명 페이지 원문 목차
Alternative splicing : a new breakthrough for understanding tumorigenesis and potential clinical applications Jiyeon Park, Joonhyuck Park, Yeun-Jun Chung p. 393-400

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Transcriptomic profiling of the cold stress and recovery responsiveness of two contrasting guizhou HE rice genotypes Zhongni Wang, Xian Wu, Yuxuan Chen, Chaoxin Wu, Wuhua Long, Susong Zhu p. 401-412

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(The) preliminary study of exosomes derived from thymosin beta 4-treated adipose-derived stem cells in fat grafting Wandi Li, Yan Yang, Xiaoyu Zhang, Yan Lin, Haoran Li, Yu Yao, Dali Mu p. 413-427

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c-Jun N-terminal kinase 1 (JNK1) phosphorylates OTX2 transcription factor that regulates early retinal development Mi-Jin An, Hyun-Min Lee, Chul-Hong Kim, Geun-Seup Shin, Ah-Ra Jo, Ji-Young Kim, Mi Jin Kim, Jinho Kim, Jinhong Park, Yujeong Hwangbo, Jeongkyu Kim, Jung-Woong Kim p. 429-435

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Comparative transcriptome analysis to reveal key ethylene genes involved in a Lonicera macranthoides mutant YuQing Long, Juan Zeng, Min Yang, XinRu Zhou, Mei Zeng, ChangYu Liu, QiaoZhen Tong, RiBao Zhou, XiangDan Liu p. 437-450

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Targeted capture enrichment and sequencing identifies HLA variants associated with the severity of COVID-19 Chuanmiao Liu, Li Zhang, Jiasheng Chen, Yu Gao p. 451-456

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Description of novel variants in consanguineous Pakistani families affected with intellectual disability Iqra Ghulam Rasool, Muhammad Yasir Zahoor, Irfan Ahmed, Muhammad Iqbal, Shehla Shafqat, Aftab Ahmad Anjum, Wasim Shehzad p. 457-465

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Four novel mutations in the androgen receptor gene from Vietnamese patients with androgen insensitivity syndrome Thu Hien Nguyen, Duc Quan Nguyen, Lien Nguyen Thi Kim, Thanh Ngan Nguyen Thi, Thi Phuong Mai Nguyen, Ngoc Dung Tran, Huy Hoang Nguyen p. 467-474

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High-throughput data on circular RNA reveal novel insights into chronic glomerulonephritis Ya-chen Gao, Nan-nan Jiang, Xiu-juan Qin, Hui Jiang, Liang-bing Wei, Jia-rong Gao p. 475-490

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Trait-driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes Martina Miceli, Pinella Failla, Lucia Saccuzzo, Ornella Galesi, Silvestra Amata, Corrado Romano, Maria Clara Bonaglia, Marco Fichera p. 491-505

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Knockdown of growth differentiation factor-15 inhibited nonsmall cell lung cancer through inactivating PTEN/PI3K/AKT signaling pathway Yongshi Liu, Jie Lei, Xiang Ji, Chunmei Li, Xiaoxia Chen, Juan Wang, Jiajia Dong, Hongpei Zhang, Yan Li p. 507-517

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(The) relationship between common mutations in CFTR, AR genes, Y chromosome microdeletions and karyotyping abnormalities with very severe oligozoospermia in Iranian men Leyla Jafari, Kyumars Safinejad, Mahboobeh Nasiri, Mansour Heidari, Massoud Houshmand p. 519-529

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(The) infertile individual analysis based on whole-exome sequencing in Chinese multi-ethnic groups Qiongzhen Zhao, Yanqi Li, Qi Liang, Jie Zhao, Kai Kang, Meiling Hou, Xin Zhang, Renqian Du, Lingyin Kong, Bo Liang, Weidong Huang p. 531-542

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참고문헌 (34건) : 자료제공( 네이버학술정보 )

참고문헌 목록에 대한 테이블로 번호, 참고문헌, 국회도서관 소장유무로 구성되어 있습니다.
번호 참고문헌 국회도서관 소장유무
1 Aiman J, Griffin JE, Gazak JM, Wilson JD, MacDonald PC (1979) Androgen insensitivity as a cause of infertility in otherwise normal men. NEJM 300:223–227 미소장
2 Al Zoubi MS, Bataineh H, Rashed M, Al-Trad B, Aljabali AA, Al-Zoubi RM, Al Hamad M, Issam AbuAlArjah M, Batiha O, Al-Batayneh KM (2020) CAG repeats in the androgen receptor gene is associated with oligozoospermia and teratozoospermia in infertile men in Jordan. Andrologia 52:e13728 미소장
3 Asatiani K, Von Eckardstein S, Simoni M, Gromoll J, Nieschlag E (2003) CAG repeat length in the androgen receptor gene affects the risk of male infertility. Int J Androl 26:255–261 미소장
4 Balkan M, Tekes S, Gedik A (2008) Cytogenetic and Y chromosome microdeletion screening studies in infertile males with Oligozoospermia and Azoospermia in Southeast Turkey. J Assist Reprod Genet 25:559–565 미소장
5 Bourrouillou G, Dastugue N, Colomies P (1985) Chromosome studies in 952 infertile males with a sperm count below 10 million/ml. Hum Genet 71:366–367 미소장
6 Cheung K, Leung C, Leung G, Wong P (2003) Synergistic effects of cystic fibrosis transmembrane conductance regulator and aquaporin-9 in the rat epididymis. Biol Reprod 68:1505–1510 미소장
7 Çinar Ç, Yazıcı C, Ergünsu Ş, Beyazyürek Ç, Javadova D, Sağlam Y, Tarcan T, Güney AI (2008) Genetic diagnosis in infertile men with numerical and constitutional sperm abnormalities. Genet Test 12:195–202 미소장
8 Delli Muti N, Agarwal A, Buldreghini E, Gioia A, Lenzi A, Boscaro M, Balercia G (2014) Have androgen receptor gene CAG and GGC repeat polymorphisms an effect on sperm motility in infertile men? Andrologia 46:564–569 미소장
9 Ellsworth RE, Jamison DC, Touchman JW, Chissoe SL, Maduro VVB, Bouffard GG, Dietrich NL, Beckstrom-Sternberg SM, Iyer LM, Weintraub LA (2000) Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes. PNAS 97:1172–1177 미소장
10 Ferlin A, Moro E, Rossi A, Dallapiccola B, Foresta C (2003) The human Y chromosome’s azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. J Med Genet 40:18–24 미소장
11 Ferlin A, Arredi B, Foresta C (2006a) Genetic causes of male infertility. Reprod Toxicol 22:133–141 미소장
12 Ferlin A, Vinanzi C, Garolla A, Selice R, Zuccarello D, Cazzadore C, Foresta C (2006b) Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations. Clin Endocrinol 65:606–610 미소장
13 Ferlin A, Raicu F, Gatta V, Zuccarello D, Palka G, Foresta C (2007) Male infertility: role of genetic background. Reprod Biomed Online 14:734–745 미소장
14 Foresta C, Garolla A, Bartoloni L, Bettella A, Ferlin A (2005) Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection. J Clin Endocrinol Metab 90:152–156 미소장
15 Ghorbel M, Baklouti-Gargouri S, Keskes R, Sellami-Ben Hamida A, Feki-Chakroun N, Bahloul A, Fakhfakh F, Ammar-Keskes L (2012) Screening of ΔF508 mutation and IVS8-poly T polymorphism in CFTR gene in Tunisian infertile men without CBAVD. Andrologia 44:376–382 미소장
16 Jaarola M, Martin RH, Ashley T (1998) Direct evidence for suppression of recombination within two pericentric inversions in humans: a new sperm-FISH technique. Am J Hum Genet 63:218–224 미소장
17 Kim MJ, Choi HW, Park SY, Song IO, Seo JT, Lee H-S (2012) Molecular and cytogenetic studies of 101 infertile men with microdeletions of Y chromosome in 1,306 infertile Korean men. J Assist Reprod Genet 29:539–546 미소장
18 Klemetti R, Raitanen J, Sihvo S, Saarni S, Koponen P (2010) Infertility, mental disorders and well-being—a nationwide survey. Acta Obstet Gynecol Scand 89:677–682 미소장
19 Komori S, Kasumi H, Kanazawa R-i, Sakata K, Nakata Y, Kato H, Koyama K (1999) CAG repeat length in the androgen receptor gene of infertile Japanese males with oligozoospermia. Mol Hum Reprod 5:14–16 미소장
20 Kovacheva K, Kotsev R, Konova E, Rilcheva V, Kamburova Z, Simeonova M (2018) Chromosomal abnormalities and Y chromosome microdeletions in Bulgarian male with azoospermia or severe oligospermia. J IMAB 24:2217–2222 미소장
21 Krausz C, Hoefsloot L, Simoni M, Tüttelmann F (2014) EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Andrology 2:5–19 미소장
22 Krausz C, Rosta V, Swerdloff RS, Wang C (2022) Genetics of male infertility. In: Pyeritz RE, Korf BR, Grody WW (eds) Emery and Rimoin’s principles and practice of medical genetics and genomics. Elsevier, Berkeley, CA, USA, pp 121–147 미소장
23 La Spada AR, Taylor JP (2010) Repeat expansion disease: progress and puzzles in disease pathogenesis. Nat Rev Genet 11:247–258 미소장
24 La Spada AR, Roling DB, Harding AE, Warner CL, Spiegel R, Hausmanowa-Petrusewicz I, Yee W-C, Fischbeck KH (1992) Meiotic stability and genotype–phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat Genet 2:301–304 미소장
25 Mobasseri N, Babaei F, Karimian M, Nikzad H (2018) Androgen receptor (AR)-CAG trinucleotide repeat length and idiopathic male infertility: a case-control trial and a meta-analysis. EXCLI J 17:1167 미소장
26 Nenonen H, Björk C, Skjaerpe P-A, Giwercman A, Rylander L, Svartberg J, Giwercman YL (2009) CAG repeat number is not inversely associated with androgen receptor activity in vitro. MHR Basic Sci Reprod Med 16:153–157 미소장
27 Ocak Z, Üyetürk U, Dincer MM (2014) Clinical and prognostic importance of chromosomal abnormalities, Y chromosome microdeletions, and CFTR gene mutations in individuals with azoospermia or severe oligospermia. Turk J Med Sci 44:347–351 미소장
28 Patrizio P, Leonard DG, Chen KL, Hernandez-Ayup S, Trounson AO (2001) Larger trinucleotide repeat size in the androgen receptor gene of infertile men with extremely severe oligozoospermia. J Androl 22:444–448 미소장
29 Pina-Neto J, Carrara R, Bisinella R, Mazzucatto L, Martins M, Sartoratto E, Yamasaki R (2006) Somatic cytogenetic and azoospermia factor gene microdeletion studies in infertile men. Braz J Med Biol Res 39:555–561 미소장
30 Safinejad K, Darbouy M, Kalantar SM, Zeinali S, Mirfakhraie R, Yadegar L, Houshmand M (2011) The prevalence of common CFTR mutations in Iranian infertile men with non-CAVD obstructive azoospermia by using ARMS PCR techniques. J Assist Reprod Genet 28:1087–1090 미소장
31 Schulz S, Jakubiczka S, Kropf S, Nickel I, Muschke P, Kleinstein J (2006) Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males. Fertil Steril 85:135–138 미소장
32 Ślęzak R, Szczepaniak M, Pasińska M, Czemarmazowicz H (2007) The analysis of CFTR mutations in men with azoospermia, oligozoospermia and asthenozoospermia. Ginek Pol 78(8):605–610 미소장
33 Van der Ven K, Messer L, van der Ven H, Jeyendran RS, Ober C (1996) Cystic fibrosis mutation screening in healthy men with reduced sperm quality. Hum Reprod 11:513–517 미소장
34 Wosnitzer MS (2014) Genetic evaluation of male infertility. Transl Androl Urol 3(1):17–26 미소장

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