Results 191 to 200 of about 304,895 (349)

Clinical Insights Into Nabais Sá‐De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nabais Sá‐De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features.
Jessica Galli, Erika Loi, Federica Zanardini, Giovanna Baldoni, Francesca Novara, Serena Panigada, Roberto Ciccone, Maria Rosa Cutrì, Alice Bertoletti, Lorenzo Pinelli, Elisa Fazzi   +10 more
wiley   +1 more source

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

Inactivation of RB1, CDKN2A, and TP53 have distinct effects on genomic stability at side‐by‐side comparison in karyotypically normal cells

Genes, Chromosomes and Cancer, Volume 62, Issue 2, Page 93-100, February 2023., 2023
Abstract Chromosomal instability is a common feature in malignant tumors. Previous studies have indicated that inactivation of the classical tumor suppressor genes RB1, CDKN2A, and TP53 may contribute to chromosomal aberrations in cancer by disrupting different aspects of the cell cycle and DNA damage checkpoint machinery.
Natalie Andersson, Karim H. Saba, Linda Magnusson, Jenny Nilsson, Jenny Karlsson, Karolin H. Nord, David Gisselsson   +6 more
wiley   +1 more source

Homologous alpha satellite sequences on human acrocentric chromosomes with selectivity for chromosomes 13, 14 and 21: implications for recombination between nonhomologues and Robertsonian translocations [PDF]

, 1988
K. H. Andy Choo, Bryce Vissel, Robert Brown, R. GAY FILBY, Elizabeth D. Earle   +4 more
openalex   +1 more source

Cognate homeo-box loci mapped on homologous human and mouse chromosomes. [PDF]

, 1986
Mark Rabin, Anne C. Ferguson‐Smith, Charles P. Hart, F.H. Ruddle   +3 more
openalex   +1 more source

Proteogenomic characterization of cholangiocarcinoma

Hepatology, EarlyView., 2022
Proteogenomic characterization of cholangiocarcinoma with therapeutic strategies Abstract Background and Aims Cholangiocarcinoma (CCA) is a highly heterogeneous cancer with limited understanding and few effective therapeutic approaches. We aimed at providing a proteogenomic CCA characterization to inform biological processes and treatment ...
Mengjie Deng, Peng Ran, Lingli Chen, Yunzhi Wang, Zixiang Yu, Ke Cai, Jinwen Feng, Zhaoyu Qin, Yanan Yin, Subei Tan, Yang Liu, Chen Xu, Guoming Shi, Yuan Ji, Jian‐Yuan Zhao, Jian Zhou, Jia Fan, Yingyong Hou, Chen Ding   +18 more
wiley   +1 more source

Amplified DNA in Y1 mouse adrenal tumor cells: isolation of cDNAs complementary to an amplified c-Ki-rasgene and localization of homologous sequences to mouse chromosome 6 [PDF]

, 1984
Donna L. George, Alan F. Scott, Bérengère de Martinville, Uta Francke   +3 more
openalex   +1 more source

TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk

Hepatology, EarlyView., 2022
The systematic approach in elucidating the gain‐of‐function (GOF) roles of TP53 mutations in early liver carcinogenesis. Unique downstream targets of TP53 L3 mutations were identified from chormatin immunoprecipitation sequencing in HCC cell lines, followed by a series of validation assays to substantiate the exclusive transcriptional regulations ...
Yin Kau Lam, Jianqing Yu, Hao Huang, Xiaofan Ding, Alissa M. Wong, Howard H. Leung, Anthony W. Chan, Kelvin K. Ng, Mingjing Xu, Xin Wang, Nathalie Wong   +10 more
wiley   +1 more source

Homologous recombination between transferred and chromosomal immunoglobulin kappa genes. [PDF]

, 1988
Mark D. Baker, Marc J. Shulman
openalex   +1 more source

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach

Human Mutation, Volume 43, Issue 12, Page 1921-1944, December 2022., 2022
Abstract Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity of 85 variants in/near BRCA2 exon 3.
Mads Thomassen, Romy L. S. Mesman, Thomas V. O. Hansen, Mireia Menendez, Maria Rossing, Ada Esteban‐Sánchez, Emma Tudini, Therese Törngren, Michael T. Parsons, Inge S. Pedersen, Soo H. Teo, Torben A. Kruse, Pål Møller, Åke Borg, Uffe B. Jensen, Lise L. Christensen, Christian F. Singer, Daniela Muhr, Marta Santamarina, Rita Brandao, Brage S. Andresen, Bing‐Jian Feng, Daffodil Canson, Marcy E. Richardson, Rachid Karam, Tina Pesaran, Holly LaDuca, Blair R. Conner, Nelly Abualkheir, Lily Hoang, Fabienne M. G. R. Calléja, Lesley Andrews, Paul A. James, Dave Bunyan, Amanda Hamblett, Paolo Radice, David E. Goldgar, Logan C. Walker, Christoph Engel, Kathleen B. M. Claes, Eva Macháčková, Diana Baralle, Alessandra Viel, Barbara Wappenschmidt, Conxi Lazaro, Ana Vega, ENIGMA Consortium, Maaike P. G. Vreeswijk, Miguel de la Hoya, Amanda B. Spurdle   +49 more
wiley   +1 more source