Results 41 to 50 of about 237,429 (310)

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes

BMC Medical Genomics, 2021
Background Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders.
Rosaria Nardello, Vincenzo Antona, Giuseppe Donato Mangano, Vincenzo Salpietro, Salvatore Mangano, Antonina Fontana   +5 more
doaj   +1 more source

A model system for study of sex chromosome effects on sexually dimorphic neural and behavioral traits [PDF]

, 2002
We tested the hypothesis that genes encoded on the sex chromosomes play a direct role in sexual differentiation of brain and behavior. We used mice in which the testis-determining gene (Sry) was moved from the Y chromosome to an autosome (by deletion of ...
Robin Lovell-Badge, De Vries, Geert, Auger, CJ, Lovell-Badge, R, Catherine J. Auger, Elka M. Scordalakes, Swain, A, Simerly, Richard B., Lovell-Badge, Robin, Richard B. Simerly, Amanda Swain, Arnold, Arthur P., Simerly, RB, Burgoyne, PS, Scordalakes, Elka M., Emilie F. Rissman, Geert J. De Vries, Liang-Yo Yang, Burgoyne, Paul S., Yang, Liang-Yo, Yang, L-Y, Rissman, EF, Rissman, Emilie F., Paul S. Burgoyne, De Vries, G, Arnold, AP, Arthur P. Arnold, Scordalakes, EM, Swain, Amanda, Auger, Catherine J.   +29 more
core   +2 more sources

Personalized Zebrafish Models for Fusion‐Positive Pediatric Sarcomas

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Clinical sequencing efforts have revolutionized our approaches to categorizing pediatric cancers in real time. This has dramatically improved our ability to profile pediatric tumors, identify actionable vulnerabilities, and influence clinical care.
Lisa H. Hall, Emma N. Harrison, Genevieve C. Kendall   +2 more
wiley   +1 more source

Dissection of genetic associations with language-related traits in population-based cohorts [PDF]

, 2011
The author was supported by the Wellcome Trust [076566/Z/05/Z]; [075491/Z/04] and the Medical Research Council [G0800523/86473].Recent advances in the field of language-related disorders have led to the identification of candidate genes for specific ...
Paracchini, Silvia, Silvia Paracchini
core   +1 more source

The Relationship between Skewed X-chromosome Inactivation and Neurological Disorders Development

International Clinical Neuroscience Journal, 2016
X-chromosome inactivation (XCI) is a process by which one of the copies of the X chromosome in mammalian female cells is inactivated. The XCI causes a balanced X-linked gene quantity between male and females; moreover, it results mosaic females which ...
Mahdi Taherian, Hossein Maghsoudi, Kazem Bidaki, Reza Taherian   +3 more
doaj   +1 more source

Impact of Metastatic Patterns on Survival and Response to Therapy in Neuroblastoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background While the presence of metastases in neuroblastoma (NB) is a well‐established prognostic factor, the clinical significance of dissemination patterns and tumour burden and their impact on response and survival remains poorly understood.
Mariona Morell‐Daniel, Santiago Pérez‐Hoyos, Aroa Soriano, Ana Coma, Amalia Varo, Raquel Hladun, Gabriela Guillén, Soraya Mico, Marta Garrido, Lourdes Rubio, Alba Rubio‐San‐Simón, Ana Minguez, Ricardo López‐Almaraz, Laura Illade, Miguel F. Segura, Lucas Moreno   +15 more
wiley   +1 more source

Rare chromosome disorders and their developmental consequences [PDF]

, 2009
Professionals working in disability services often encounter clients who have chromosome disorders such as Williams, Angelman or Down syndromes. As chromosome testing becomes increasingly sophisticated, however, more people are being diagnosed with very ...
Gilmore, Linda
core  

Neurodevelopmental Disorders Associated with Chromosome 15 [PDF]

, 2011
Chromosome 15 is a focus of increasing interest to both psychiatry and neurology. Several neurodevelopmental disorders are genetically associated with this autosome, including Prader-Willi syndrome, Angelman syndrome, Dyslexia, Autism, Hyperlexia, Ring ...
Sieg, M.D., Karl G.
core   +2 more sources

An Autosomal Translocation 73,XY,t(12;20)(q11;q11) in an Infertile Male Llama (Lama glama) With Teratozoospermia

Frontiers in Genetics, 2019
Structural chromosome abnormalities, such as translocations and inversions occasionally occur in all livestock species and are typically associated with reproductive and developmental disorders.
Malorie P. Baily, Felipe Avila, Pranab J. Das, Michelle A. Kutzler, Terje Raudsepp   +4 more
doaj   +1 more source

Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation

FEBS Letters, EarlyView.
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe, Tanmay Kumar Mohanty, Rashna Bhandari, Dorothea Fiedler   +3 more
wiley   +1 more source