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Genetics

Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation

Maya-González C, Wessman S, Lagerstedt-Robinson K, Taylan F, Tesi B, Kuchinskaya E, McCluggage WG, Poluha A, Holm S, Nergårdh R, Díaz De Ståhl T, Höybye C, Tettamanti G, Delgado-Vega AM, Skarin Nordenvall A, Nordgren A. Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation Front Med (Lausanne)
Genetics

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families

Jain V, Foo SH, Chooi S, Moss C, Goodwin R, Berland S, Clarke AJ, Davies SJ, Corrin S, Murch O, Doyle S, Graham GE, Greenhalgh L, Holder SE, Johnson D, Kumar A, Ladda RL, Sell S, Begtrup A, Lynch SA, McCann E, Østern R, Pottinger C, Splitt M, Fry AE. Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families Eur J Hum Genet
Genetics

Polymorphisms of Fat Mass and Obesity-Associated Gene in the Pathogenesis of Child and Adolescent Metabolic Syndrome

Song Y, Wade H, Zhang B, Xu W, Wu R, Li S, Su Q. Polymorphisms of Fat Mass and Obesity-Associated Gene in the Pathogenesis of Child and Adolescent Metabolic Syndrome Nutrients
Genetics

Sex differences in the association between dynapenic abdominal obesity and onset of disability in activities of daily living among adults aged ≥50 years: A prospective analysis of the Irish Longitudinal Study on Ageing

Smith L, López Sánchez GF, Tully MA, Veronese N, Soysal P, Yon DK, Pizzol D, López-Gil JF, Barnet Y, Butler L, Shin JI, Koyanagi A. Sex differences in the association between dynapenic abdominal obesity and onset of disability in activities of daily living among adults aged ≥50 years: A prospective analysis of the Irish Longitudinal Study on Ageing Maturitas
Genetics

Truncating homozygous mutation of carboxypeptidase E (CPE) in a morbidly obese female with type 2 diabetes mellitus, intellectual disability and hypogonadotrophic hypogonadism

S. I. M. Alsters; A. P. Goldstone; J. L. Buxton; A. Zekavati; A. Sosinsky; A. M. Yiorkas; S. Holder; R. E. Klaber; N. Bridges; M. M. Van Haelst; C. W. L. Roux; A. J. Walley; R. G. Walters; M. Mueller; A. I. F. Blakemore Truncating homozygous mutation of carboxypeptidase E (CPE) in a morbidly obese female with type 2 diabetes mellitus, intellectual disability and hypogonadotrophic hypogonadism PLoS ONE
Genetics Insulin Resistance & Diabetes

The impact of MTHFR 677C → T risk knowledge on changes in folate intake: findings from the Food4Me study

C. B. O'Donovan; M. C. Walsh; H. Forster; C. Woolhead; C. Celis-Morales; R. Fallaize; A. L. Macready; C. F. Marsaux; S. Navas-Carretero; R. San-Cristobal; S. Kolossa; C. Mavrogianni; C. P. Lambrinou; G. Moschonis; M. Godlewska; A. Surwillo; J. Bouwman; K. The impact of MTHFR 677C → T risk knowledge on changes in folate intake: findings from the Food4Me study Genes Nutr
Genetics

Correlative study on impaired prostaglandin E2 regulation in epicardial adipose tissue and its role in maladaptive cardiac remodeling via EPAC2 and ST2 signaling in overweight cardiovascular disease subjects

E. Vianello; E. Dozio; F. Bandera; M. Froldi; E. Micaglio; J. Lamont; L. Tacchini; G. Schmitz; M. M. C. Romanelli Correlative study on impaired prostaglandin E2 regulation in epicardial adipose tissue and its role in maladaptive cardiac remodeling via EPAC2 and ST2 signaling in overweight cardiovascular disease subjects International Journal of Molecular Sciences
Genetics

Visceral adipose tissue modulates radiosensitivity in oesophageal adenocarcinoma

A. M. Mongan; N. Lynam-Lennon; S. L. Doyle; R. Casey; E. Carr; A. Cannon; M. J. Conroy; G. P. Pidgeon; L. Brennan; J. Lysaght; J. V. Reynolds; J. O’sullivan Visceral adipose tissue modulates radiosensitivity in oesophageal adenocarcinoma International Journal of Medical Sciences
Genetics

Visceral obesity stimulates anaphase bridge formation and spindle assembly checkpoint dysregulation in radioresistant oesophageal adenocarcinoma

A. M. Mongan; N. Lynam-Lennon; R. Casey; S. Maher; G. Pidgeon; J. V. Reynolds; J. O’Sullivan Visceral obesity stimulates anaphase bridge formation and spindle assembly checkpoint dysregulation in radioresistant oesophageal adenocarcinoma Clinical and Translational Oncology
Genetics

MicroRNAs in obesity, sarcopenia, and commonalities for sarcopenic obesity: a systematic review

L. Dowling; A. Duseja; T. Vilaca; J. S. Walsh; K. Goljanek-Whysall MicroRNAs in obesity, sarcopenia, and commonalities for sarcopenic obesity: a systematic review J Cachexia Sarcopenia Muscle
Genetics

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