Publikatsioonid

2018

• Kasak, Laura; Rull, Kristiina; Laan, Maris (2018). Genetics and Genomics of Recurrent Pregnancy Loss. In: Peter Leung, Jie Qiao (Ed.). Human Reproductive and Prenatal Genetics (1st Edition), pp. 463−494. Academic Press Inc., Elsevier Science.
• Kasak, Laura; Rull, Kristiina; Laan, Maris (2018). Overview of Genetic Causes. In: Mala Arora, Neelanjana Mukhopadhaya (Ed.) Recurrent Pregnancy loss (3rd Edition), pp. 19-26. Jaypee Brothers Medical Publishers (P) Ltd.
• Kasak L, Punab M, Nagirnaja L, Grigorova M, Minajeva A, Lopes AM, Punab AM, Aston KI, Carvalho F, Laasik E, Smith LB; GEMINI Consortium, Conrad DF, Laan M (2018). Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. Am J Hum Genet. 103(2):200-212.
• Rull K, Grigorova M, Ehrenberg A, Vaas P, Sekavin A, Nõmmemees D, Adler M, Hanson E, Juhanson P, Laan M (2018). FSHB −211 G>T is a major genetic modulator of reproductive physiology and health in childbearing age women. Hum Reprod 33(5):954-966.

2017

• Reiman M, Laan M, Rull K, Sõber S (2017). Effects of RNA integrity on transcript quantification by total RNA sequencing of clinically collected human placental samples. FASEB J. 31(8):3298-3308.
• Grigorova M, Punab  M, Poolamets  O, Adler  M, Vihljajev V, Laan M (2017). Genetics of Sex Hormone-Binding Globulin and Testosterone Levels in Fertile and Infertile Men of Reproductive Age. Journal of the Endocrine Society, 1(6) 560–576.
• Kasak L, Rull K, Sõber S, Laan M (2017). Copy number variation profile in the placental and parental genomes of recurrent pregnancy loss families. Sci Rep 7:45327.
• Grigorova M, Punab M, Kahre T, Ivandi M, Tõnisson N, Poolamets O, Vihljajev V, Žilaitienė B, Erenpreiss J, Matulevičius V, Laan M (2017). The number of CAG and GGN triplet repeats in the Androgen Receptor gene exert combinatorial effect on hormonal and sperm parameters in young men. Andrology 5(3):495-504.
• Punab M, Poolamets O, Paju P, Vihljajev V, Pomm K, Ladva R, Korrovits P, Laan M (2017). Causes of male infertility: a 9-year prospective monocentre study on 1737 patients with reduced total sperm counts. Hum Reprod 32(1):18-31.

2016

• Sõber S, Rull K, Reiman M, Ilisson P, Mattila P, Laan M (2016). RNA sequencing of chorionic villi from recurrent pregnancy loss patients reveals impaired function of basic nuclear and cellular machinery. Sci Rep 6:38439.
• Juhanson P, Rull K, Kikas T, Laivuori H, Vaas P, Kajantie E, Heinonen S, Laan M (2016). Stanniocalcin-1 Hormone in Nonpreeclamptic and Preeclamptic Pregnancy: Clinical, Life-Style, and Genetic Modulators. J Clin Endocrinol Metab 101(12):4799-4807.
• Nagirnaja L, Nõmmemees D, Rull K, Christiansen OB, Nielsen HS, Laan M (2016). Response to "Annexin A5 haplotype M2 is not a risk factor for recurrent miscarriages in Northern Europe, is there sufficient evidence?". Reprod Biomed Online 33(1):114-5.

2015

• Sõber S, Reiman M, KikasT, Rull K, Inno R, Vaas, P, Teesalu P, Lopez Marti JM, Mattila P, Laan M (2015). Extensive shift in placental transcriptome profile in preeclampsia and placental origin of adverse pregnancy outcomes. Sci Rep 5:13336.
• Punab AM, Grigorova M, Punab M, Adler M, Kuura T, Poolamets O, Vihljajev V, Žilaitienė B, Erenpreiss J, Matulevičius V, Laan M (2015). Carriers of V-LH among 1593 Baltic men have significantly higher serum LH. Andrology 3(3):512-9.
• Nagirnaja L, Nõmmemees D, Rull K, Christiansen OB, Nielsen HS, Laan M (2015). Annexin A5 Promoter Haplotype M2 Is Not a Risk Factor for Recurrent Pregnancy Loss in Northern Europe. PLoS One 10(7):e0131606.
• Palta P, Kaplinski L, Nagirnaja L, Veidenberg A, Möls M, Nelis M, Esko T, Metspalu A, Laan M, Remm M (2015). Haplotype phasing and inheritance of copy number variants in nuclear families. PLoS One 10(4):e0122713.
• Kasak L, Rull K, Vaas P, Teesalu P, Laan M (2015). Extensive load of somatic CNVs in the human placenta. Sci Rep 5:8342.
• Putku M, Kals M, Inno R, Kasela S, Org E, Kožich V, Milani L, Laan M (2015). CDH13 promoter SNPs with pleiotropic effect on cardiometabolic parameters represent methylation QTLs. Hum Genet 134(3):291-303.

2014

• Nagirnaja L, Palta P, Kasak L, Rull K, Christiansen OB, Nielsen HS, Steffensen R, Esko T, Remm M, Laan M (2014). Structural genomic variation as risk factor for idiopathic recurrent miscarriage. Hum Mutat 35(8):972-82.
• Grigorova M, Punab M, Punab AM, Poolamets O, Vihljajev V, Zilaitienė B, Erenpreiss J, Matulevičius V, Laan M (2014). Reproductive physiology in young men is cumulatively affected by FSH-action modulating genetic variants: FSHR -29G/A and c.2039 A/G, FSHB -211G/T. PLoS One. 9(4):e94244.

2013

• Timasheva Y, Putku M, Kivi R, Kožich V, Männik J, Laan M (2013). Developmental programming of growth: Genetic variant in GH2 gene encoding placental growth hormone contributes to adult height determination. Placenta 34(11): 995-1001.
• Rull K, Christiansen OB, Nagirnaja L, Steffensen R, Margus T, Laan M (2013). A modest but significant effect of CGB5 gene promoter polymorphisms in modulating the risk of recurrent miscarriage. Fertil Steril 99(7):1930-6.e6.
• Grigorova M, Punab M, Poolamets O, Sõber S, Vihljajev V, Zilaitienė B, Erenpreiss J, Matulevičius V, Tsarev I, Laan M (2013). Study in 1790 Baltic men: FSHR Asn680Ser polymorphism affects total testes volume. Andrology 1(2):293-300.
• Rull K, Tomberg K, Kõks S, Männik J, Möls M, Sirotkina M, Värv S, Laan M (2013). Increased placental expression and maternal serum levels of apoptosis-inducing TRAIL in recurrent miscarriage. Placenta 34(2):141-8.

Lisaks on meie tegevus jätkuvalt panustanud ka vererõhu, neerufunktsiooni ja üldise metabolismi geneetilise komponendi uuringutesse, mille põhimeetodiks on üle-genoomsete assotsiatsiooniuuringute meta-analüüsid:

• Wain et al, ICBP-GWAS (2017) Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. Hypertension. 2017 Jul 24. pii: HYPERTENSIONAHA.117.09438. doi: 10.1161/HYPERTENSIONAHA.117.09438. [Epub ahead of print]
• Warren et al, ICBP-GWAS (2017) Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. Nat Genet 49(3):403-415.
• Pattaro et al, ICBP-GWAS (2016) Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. Nat Commun 7:10023.
• ‘Locke AE et al, ICBP-GWAS (2015) Genetic studies of body mass index yield new insights for obesity biology. Nature 518(7538):197-206.
• Shungin D et al, ICBP-GWAS (2015) New genetic loci link adipose and insulin biology to body fat distribution. Nature 518(7538):187-96.
• Simino J, et al (2014) Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. Am J Hum Genet 95(1):24-38.
• Ganesh SK et al, Global BPgen (2014) Effects of long-term averaging of quantitative blood pressure traits on the detection of genetic associations. Am J Hum Genet 95(1):49-65.
• Köttgen A et al, GUGCI (2013) Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet 45(2):145-54.
• Sim X et al, Global BPgen (2013) Genetic loci for retinal arteriolar microcirculation. PLoS One 8(6):e65804.