Results 111 to 120 of about 3,862,863 (318)

Interpreting the effects of DNA polymerase variants at the structural level

Molecular Oncology, EarlyView.
Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi, Karolina Krzesińska, Ludovica Beltrame, Pablo Sánchez‐Izquierdo Besora, Matteo Tiberti, Mef Nilbert, Anna Rohlin, Elena Papaleo   +7 more
wiley   +1 more source

Fetal alcohol syndrome; guidelines for referral and diagnosis [PDF]

National Center on Birth Defects and Developmental Disabilities in coordination with National Task Force on Fetal Alcohol Syndrome and Fetal Alcohol Effect (American Academy of Pediatrics, American College of Obstetricians and Gynecologists, March of ...

core  

Mycobacterial cell division arrest and smooth‐to‐rough envelope transition using CRISPRi‐mediated genetic repression systems

FEBS Open Bio, EarlyView.
CRISPRI‐mediated gene silencing and phenotypic exploration in nontuberculous mycobacteria. In this Research Protocol, we describe approaches to control, monitor, and quantitatively assess CRISPRI‐mediated gene silencing in M. smegmatis and M. abscessus model organisms.
Vanessa Point, Wafaa Achache, Janïs Laudouze, Eliana Sepulveda Ramos, Mickaël Maziero, Céline Crauste, Stéphane Canaan, Pierre Santucci   +7 more
wiley   +1 more source

Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry

Molecular Autism
Background Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by 22q13 deletions that include the SHANK3 gene or pathogenic sequence variants in SHANK3.
Rui Yin, Maxime Wack, Claire Hassen-Khodja, Michael T. McDuffie, Geraldine Bliss, Elizabeth J. Horn, Cartik Kothari, Brittany McLarney, Rebecca Davis, Kristen Hanson, Megan O’Boyle, Catalina Betancur, Paul Avillach   +12 more
doaj   +1 more source

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. [PDF]

, 2011
The biological processes controlling human growth are diverse, complex and poorly understood. Genetic factors are important and human height has been shown to be a highly polygenic trait to which common and rare genetic variation contributes.
Cole, Trevor, Tatton-Brown, Katrina, Douglas, Jenny, Sheila Seal, Loveday, C, Patton, Michael, A Splitt, Ruark, E, Patricia Wheeler, Ra Hanks, Michael Patton, Murray, A, Katie Snape, Ramsay, Emma, Seal, Sheila, Clare Taylor, Ramsay, E, Volker Strenger, Taylor, C, Vivienne Mcconnell, Zachariou, A, Temple, KI, Loveday, Chey, Tatton-Brown, K, Patton, M, Temple, IK, Katrina Tatton-brown, Duarte, SDELV, Seal, S, Douglas, J, Jenny Douglas, Raith, W, Clericuzio, Carol, Temple, I. Karen, Magee, A, Anne Murray, Flinter, F, ?, ?, Splitt, Miranda, Banka, S, Rahman, N, Strenger, V, Flinter, Frances, Trevor Cole, Rankin, Julia, Carol Clericuzio, Snape, Katie, Zachariou, Anna, Temple, Karen I, Anna Zachariou, Murray, Anne, Splitt, M, Julia Rankin, Temple, Karen I., Nazneen Rahman, Elise Ruark, Wheeler, P, Magee, Alex, Childhood Overgrowth Collaboration, The Childhood Overgrowth, Strenger, Volker, Duarte, SDV, I Karen Temple, McConnell, Vivienne, Perdeaux, Elizabeth R, Banka, Siddharth, Clericuzio, C, Hanks, Sandra, Siddharth Banka, Del Vecchio Duarte, Frances Flinter, Wheeler, Patricia, Emma Ramsay, Ruark, Elise, Banka, Siddharth; id_orcid, McConnell, V, Elizabeth R, Perdeaux, ER, Cole, T, Taylor, Clare, Snape, K, Raith, Wolfgang, Chey Loveday, Rahman, Nazneen, Duarte, Silvana Del Vecchio, Hanks, S, Perdeaux, Elizabeth R., Alex Magee, Rankin, J   +88 more
core   +1 more source

Identification of functional murine mitochondrial formyl peptides and their effects on myeloid‐derived suppressor cell generation

FEBS Open Bio, EarlyView.
We first identified functional murine mitochondrial N‐formyl peptides (MT‐FPs) and investigated their effects on the in vitro myeloid‐derived suppressor cell (MDSC) generation from bone marrow cells. We demonstrated that MT‐FPs acted directly on bone marrow cells to promote MDSC generation and modulated the polymorphonuclear (PMN)‐MDSC/monocyte (M ...
Miyako Ozawa, Saori Kagoshima, Akira Yamada   +2 more
wiley   +1 more source

Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency

Biomédica: revista del Instituto Nacional de Salud
Cernunnos/XLF deficiency is a rare, severe combined immunodeficiency, inherited in an autosomal recessive pattern (OMIM number: 611290), related to the NHEJ1 gene.
Ana María Navarro, Gabriela Mantilla, Jorge Andrés Fernández, Mario Fernando Unigarro, Alfonso Suárez, María Claudia Ortega   +5 more
doaj   +1 more source

Gradenigo Syndrome

Philippine Journal of Otolaryngology Head and Neck Surgery, 2008
Chronic suppurative otitis media (CSOM) has a potential for intratemporal complications. Gradenigo syndrome, lateral sinus thrombosis and cavernous sinus thrombosis must be considered when patients present with ear discharge, headache, fever and lateral ...
Marc Reinald G. Santiago, Natividad A. Almazan   +1 more
doaj   +1 more source

The C‐terminal region of KIF26B is indispensable for nephron progenitor condensation and kidney formation in mice

FEBS Open Bio, EarlyView.
KIF26B plays an important role in kidney development. We engineered mice lacking the C‐terminal region of KIF26B and found severe kidney defects, including bilateral renal agenesis, similar to full Kif26b knockout mice. The mutation disrupted nephron progenitor condensation and reduced Gdnf‐Wnt11 signaling, showing that the KIF26B C‐terminal region is ...
Yuta Yamamura, Kengo Furuichi, Hiromitsu Akamatsu, Naoki Yamamoto, Sako Keisuke, Akihiko Koshino, Taichiro Minami, Megumi Oshima, Akinori Hara, Norihiko Sakai, Miho Shimizu, Kenta Takahashi, Minako Yamamura, Shin‐ichi Horike, Takiko Daikoku, Kenichi Harada, Yohei Shinmyo, Hiroshi Kawasaki, Takashi Wada, Yasunori Iwata   +19 more
wiley   +1 more source

MICROCEPHALY AND MACROCEPHALY. A STUDY ON ANTHROPOMETRIC AND CLINICAL DATA FROM 308 SUBJECTS

Euromediterranean Biomedical Journal, 2019
Head circumference is the auxological parameter that most correlates with developmental anomalies in childhood. Head circumference (HC) two standard deviations (SD) below or above the mean defines microcephaly and macrocephaly, respectively.
Ettore Piro
doaj   +1 more source