Results 81 to 90 of about 27,955 (284)

Pathogenic variants in chromatin‐related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disorders

Developmental Medicine &Child Neurology, EarlyView.
Chromatin machinery influences how DNA is ‘wrapped’ around histones in the nucleosome of immune and brain cells. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16299 Abstract We report eight children with de novo pathogenic DNA variants in chromatin‐related genes: MORC2, CHD7, KANSL1, KMT2D, ZMYND11, HIST1HIE, EP300, and KMT2B.
Russell C. Dale, Shekeeb Mohammad, Velda X. Han, Hiroya Nishida, Himanshu Goel, Stuart G. Tangye, Georgina Hollway, Esther Tantsis, Deepak Gill, Shrujna Patel, Chromatin Immune‐Brain Group, Michael Lonergan, Melanie Wong, Kavitha Kothur, Erica Tsang   +14 more
wiley   +1 more source

The BFKL-Regge Phenomenology of Deep Inelastic Scattering [PDF]

JETP Lett. 66 (1997) 138-143; Pisma Zh.Eksp.Teor.Fiz. 66 (1997) 134-138, 1997
We calculate the Regge trajectories of the subleading BFKL singularities and eigenfunctions for the running BFKL pomeron in the color dipole representation. We obtain a viable BFKL-Regge expansion of the proton structure function $F_{2p}(x,Q^2)$ in terms of several rightmost BFKL singularities.
arxiv   +1 more source

Developmental and epileptic encephalopathy in patients with epilepsy due to hypothalamic hamartomas

Epilepsia, EarlyView.
Abstract Objective What factors influence cognition and behavior in patients with epilepsy caused by hypothalamic hamartoma (HH)? Methods We conducted a retrospective study of 103 patients referred to the Epilepsy Center in Freiburg, Germany, over the past 24 years.
Kathrin Wagner, Theo Demerath, Sarah Metzger, Friederike Niedermoser, Birgitta Metternich, Lisa Putzar, Horst Urbach, Victoria San Antonio‐Arce, Kerstin Alexandra Klotz, Andreas Schulze‐Bonhage   +9 more
wiley   +1 more source

Exploring the Mechanistic Interplay between Gut Microbiota and Precocious Puberty: A Narrative Review

Microorganisms
The gut microbiota has been implicated in the context of sexual maturation during puberty, with discernible differences in its composition before and after this critical developmental stage.
Min Yue, Lei Zhang
doaj   +1 more source

A Testicular Leydig Cell Tumor; An Uncommon Cause of Precocious Puberty: A Case Report With Secondary Central Precocious Puberty

Acta Medica Iranica, 2023
Sexual precocity in boys is defined as any sign of secondary sexual characteristics present before the age of 9. Leydig cell tumors of the testes are a rare cause of peripheral precocious puberty in boys.
Seyede Tahereh Mousavi, Farshad Zohrabi, Mohammadreza Farzaneh   +2 more
doaj  

Ovarian volume throughout life: a validated normative model [PDF]

, 2013
The measurement of ovarian volume has been shown to be a useful indirect indicator of the ovarian reserve in women of reproductive age, in the diagnosis and management of a number of disorders of puberty and adult reproductive function, and is under investigation as a screening tool for ovarian cancer.
arxiv   +1 more source

Distinct gray matter and metabolic characteristics in hypothalamic hamartoma network with different semiology

Epilepsia, EarlyView.
Abstract Objective Hypothalamic hamartomas (HHs) are developmental malformations associated with focal epilepsy. We investigated the patterns of gray matter morphology and cerebral metabolism in individuals with HHs, with and without focal to bilateral tonic–clonic seizures (FBTCSs), aiming to clarify the accompanying network abnormalities.
Yihe Wang, Tao Feng, Fenglai Xiao, Yanfeng Yang, Marine N. Fleury, Lawrence P. Binding, Davide Giampiccolo, Peter Taylor, Matthias J. Koepp, John S. Duncan, Penghu Wei, Yongzhi Shan, Guoguang Zhao   +12 more
wiley   +1 more source

Central Precocious Puberty Alters the Mammary Gland Epithelial Landscape in Female Rats [PDF]

, 2017
Precocious puberty (PP) is a serious endocrine disorder associated with an increased risk for development of breast cancer (BC) later in life. However, the lack of a strong in vivo model has made it difficult to study this relationship.
Hamilton, Alina M.
core   +1 more source

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. [PDF]

, 2014
Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality.
A Kong, A Lomniczi, A Murphy, A Schröder, AA D’Aloisio, Aarno Palotie, AB Migliano, Adamo Pio D’adamo, Aida K. Dieffenbach, AL Dixon, Albert Hofman, Albert V. Smith, Albertine J. Oldehinkel, Alexander Teumer, Alison M. Dunning, Andrea D. Coviello, Andrea Ganna, Andres Metspalu, Andrew C. Heath, Andrew D. Johnson, André G. Uitterlinden, Angela Cox, Anja Rudolph, Anna M. Storniolo, Anna Murray, Anneli Pouta, Annika Lindblom, Antonietta Robino, AP Abreu, Arto Mannermaa, AS Dimas, AV Segrè, B Kabakchiev, B Zhang, BE Stranger, Behrooz Z. Alizadeh, Ben A. Oostra, Bernardo Bonanni, Bjarke Feenstra, BP Fairfax, Bruce H. R. Wolffenbuttel, C Colantuoni, C Liu, C-J Partsch, Carl Blomqvist, Catharina A. Hartman, Cathy E. Elks, CE Elks, Christian Gieger, Chunyan He, CJ Willer, Cornelia M. van Duijn, CP Schaaf, Craig E. Pennell, D Mehta, D Sasayama, DA Cusanovich, Daniel F. Gudbjartsson, Daniel I. Chasman, Daniel L. Koller, David Couper, David J. Hunter, David Karasik, David P. Strachan, David Schlessinger, Debbie Lawlor, Deborah J. Thompson, Diana L. Cousminer, Dieter Flesch-Janys, Diether Lambrechts, Dirkje S. Postma, DM Greenawalt, Doris Stöckl, Dorret I. Boomsma, Douglas F. Easton, Douglas P. Kiel, E Grundberg, E Grundberg, E Grundberg, Eco E. J. de Geus, EE Schadt, EK Speliotes, EL Heinzen, Eleonora Porcu, Elisabeth Widen, Elizabeth A. Streeten, Ellen A. Nohr, Ellen W. Demerath, Emmi Tikkanen, Enda M. Byrne, Eric Boerwinkle, Erik Ingelsson, Erin K. Wagner, Eva Albrecht, Evelin Mihailov, F Innocenti, F Nagl, F Zou, Felix Day, Femke Atsma, Fergus J. Couch, Fernando Rivadeneira, Frank B. Hu, Frank Geller, GA Heap, George Davey Smith, George McMahon, Georgia Chenevix-Trench, Gerard Waeber, Gisli Masson, Gonneke Willemsen, Graham G. Giles, Grant W. Montgomery, Gudmar Thorleifsson, Gudny Eiriksdottir, H Lango Allen, H-J Westra, Harold Snieder, Heather A. Boyd, Heli Nevanlinna, Henri Wallaschofski, Henrik Flyger, Henry Völzke, Hermann Brenner, HHH Göring, Hiltrud Brauch, Hoda Anton-Culver, IK Temple, Ilja M. Nolte, Immaculata De Vivo, Irene L. Andrulis, J Ding, J Huang, J Yang, J Yang, J Yang, J. Margriet Collée, JA Webster, Javier Benitez, JC Barrett, Jenny A. Visser, Jenny Chang-Claude, JF Degner, Jing Hua Zhao, Jinhui Chen, Joanne M. Murabito, Joe Dennis, Johan G. Eriksson, John L. Hopper, John P. Rice, John R. B. Perry, Jonathan Tyrer, Jouke-Jan Hottenga, JR Gibbs, Julia A. Knight, Julian Peto, Julie E. Buring, K Estrada, K Hao, K Michailidou, Kamila Czene, Kari Stefansson, Kathryn L. Lunetta, Katri Pylkäs, Kay-Tee Khaw, Ken K. Ong, KS Kompass, Kyriaki Michailidou, L Liang, Laura Crisponi, Laura J. Bierut, Laura M. Yerges-Armstrong, Lavinia Paternoster, LB Barreiro, LFG Silveira, Lili Milani, Lisette Stolk, Lude Franke, Luigi Ferrucci, Lynda M. Rose, M Horikoshi, M Rantalainen, Maartje J. Hooning, Mads Melbye, Manjeet K. Bolla, Marek Zygmunt, Margaret J. Wright, Marjanka K. Schmidt, Marjo-Riitta Järvelin, Mark I. McCarthy, Massimo Mangino, Matthias W. Beckmann, Meir J. Stampfer, Melanie Waldenberger, Melissa E. Garcia, Mellissa C. Southey, Michael J. Econs, Montserrat García-Closas, Munro Peacock, N Ruf, Najaf Amin, Nancy L. Pedersen, Natalia Tšernikova, Nicholas G. Martin, Nicholas J. Timpson, Nicholas J. Wareham, Nora Franceschini, P Prentice, Paolo Gasparini, Paolo Peterlongo, Paolo Radice, Pascal Guénel, Patrick F. McArdle, Patrick Neven, Patrick Sulem, Patrik K. Magnusson, Paul D. P. Pharoah, Paul M. Ridker, Per Hall, Peter A. Fasching, Peter Devilee, Peter Kraft, Peter Vollenweider, Q Li, Qin Wang, Reedik Mägi, Robert Winqvist, Robin Haring, Roger L. Milne, RP Grinspon, RS Huang, RSN Fehrmann, Ruth J. F. Loos, S Cho, S Constantin, S Sulzbacher, Sandra Lai, Sanela Kjellqvist, SE Parker, Serena Sanna, Sheila Ulivi, Stefania Bandinelli, Stephen Chanock, Stig E. Bojesen, Suiqun Guo, Susan Ring, Sven Bergmann, T Kwan, T Maeda, T Zeller, Tamara B. Harris, Tanguy Corre, Tatiana Foroud, Teresa Ferreira, Thorkild I. A. Sørensen, Tim D. Spector, Tune H. Pers, Tõnu Esko, Ulla Sovio, Unnur Thorsteinsdottir, Ute Hamann, V Emilsson, Veikko Salomaa, Veli-Matti Kosma, Vilmundur Gudnason, W Zheng, Wei Q. Ang, Wendy L. McArdle, Y Idaghdour, Y Stelzer, Z Zadik, Zoltan Kutalik   +271 more
core   +7 more sources

Persistence of EEG abnormalities in KCNT1‐related DEE in an adult patient

Epileptic Disorders, EarlyView.
Haania Kakwan, Omar Nofal, Doyle Yuan, Irfan S. Sheikh   +3 more
wiley   +1 more source