Results 151 to 160 of about 92,054 (252)

Genetic analysis of an asymptomatic female with a large Xp deletion revealed insights into the X chromosome inactivation pattern: a case report. [PDF]

Mol Cytogenet
Zhang LJ, Liu WL, Shao SY, Xu Y, Zhou L.
europepmc   +1 more source

Assessing a Model for a Complex Systemic Disorder—The Value of Male Mice With a Supernumerary X Chromosome for Klinefelter Syndrome Research

Andrology, EarlyView.
ABSTRACT Introduction Direct experimental investigation of Klinefelter syndrome (KS) in patients is limited because the syndrome manifests heterogeneously and affects multiple organ systems. Studying KS therefore requires a model that captures this complexity as accurately as possible while still permitting controlled experimental manipulation ...
Fariba Saadati, Joachim Wistuba
wiley   +1 more source

Targeting microRNA-dependent control of X chromosome inactivation improves the Rett Syndrome phenotype. [PDF]

Nat Commun
Lou S, DJiake Tihagam R, Wasko UN, Equbal Z, Venkatesan S, Braczyk K, Przanowski P, Il Koo B, Saltani I, Singh AT, Likhite S, Powers S, Souza GMPR, Maxwell RA, Yu J, Zhu LJ, Beenhakker M, Abbott SBG, Lu Z, Green MR, Meyer KC, Tushir-Singh J, Bhatnagar S.   +22 more
europepmc   +1 more source

Limited Clinical Impact of Androgen Receptor Repeat Length (CAG and GGC) in Klinefelter Syndrome: A Multivariable Analysis

Andrology, EarlyView.
ABSTRACT Background Klinefelter syndrome (KS) is characterized by marked phenotypic heterogeneity that might be influenced by genetic modifiers, including androgen receptor (AR) repeat length (CAGn and GGCn). The clinical relevance of these repeat lengths in patients with KS before testosterone replacement therapy (TRT) remains unclear.
Andrea Graziani, Alberto Scala, Maria Santa Rocca, Cinzia Vinanzi, Giuseppe Grande, Andrea Di Nisio, Riccardo Selice, Antonella Di Mambro, Alberto Ferlin   +8 more
wiley   +1 more source

X-linked Deficiency in ELF4 in Females with Skewed X Chromosome Inactivation. [PDF]

J Clin Immunol
Zhao R, Zhang Z, Mei S, Sun L, Zhang Q, Lv Q, Zhou F, Sun G, Zhou L, Tang X, An Y, Liu Z, Zhao X, Du H.   +13 more
europepmc   +1 more source

Neoplastic Risk in Patients With Klinefelter Syndrome

Andrology, EarlyView.
ABSTRACT Background Besides gonadal involvement (hypogonadism, male factor infertility, and testicular hypotrophy), patients with Klinefelter syndrome (KS) may suffer from several extra‐gonadic complications, including neoplastic events. Objective The aim of this review is to summarize all major clinical evidence dealing with the association between KS
Andrea Graziani, Giuseppe Grande, Riccardo Selice, Antonella Di Mambro, Alberto Ferlin   +4 more
wiley   +1 more source

Reactivation of Human X-Linked Gene and Stable X-Chromosome Inactivation Observed in Generation and Differentiation of iPSCs from a Female Patient with HNRNPH2 Mutation. [PDF]

Cells
Chen G, Rodriguez-Lopez A, Wangsa D, Lomash RM, Huang X, Chen CZ, Bowling RA, Ghousifam N, Banks CJ, Hurd KA, Zou J, Zheng W.   +11 more
europepmc   +1 more source

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

Role of the SAF-A/HNRNPU SAP domain in X chromosome inactivation, nuclear dynamics, transcription, splicing, and cell proliferation. [PDF]

PLoS Genet
Sharp JA, Sparago E, Thomas R, Alimenti K, Wang W, Blower MD.   +5 more
europepmc   +1 more source

Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A. Curcio, Svetlana Cherepanoff, Tina M. Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A. Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C. B. Wong, Petra Liskova, Fred K. Chen   +17 more
wiley   +1 more source