Results 181 to 190 of about 3,786,126 (364)

A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic Disorders [PDF]

, 2001
Mónica Gratacòs, Marga Nadal, Rocío Martín‐Santos, Miguel Angel Pujana, Jordi Gago, Belén Peral, Lluı́s Armengol, Immaculada Ponsa, Rosa Miró, Antoni Bulbena, Xavier Estivill   +10 more
openalex   +1 more source

Direct Sequencing of 5‐Methylcytosine and 5‐Hydroxymethylcytosine at Single‐Base Resolution Unravels Their Distinct Roles in Alzheimer's Disease

Advanced Science, EarlyView.
This study introduces two orthogonal sequencing methods, CMD1‐Deaminase sequencing (CD‐seq) and CMD1‐TET bisulfite sequencing (CT‐seq), that enable direct, independent detection of 5mC. Using these approaches together with ACE‐seq or TAB‐seq for 5hmC identification, the study reveals a significant reduction in 5hmC, but not 5mC, in the hippocampus of ...
Zi‐Xin Wang, Faying Chen, Bao‐Dan He, Fan‐Chen Wang, Jiaxue Cha, Yu Song, Wei‐Ying Meng, Wan‐Yue Zou, Yu‐Tao Fu, Shu‐Xia Sun, Zhi‐Yan Sun, Hao‐Ming Jiang, Ke‐Yao Zhao, Yujun Hou, Jiejun Shi, Jian‐Huang Xue   +15 more
wiley   +1 more source

A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: Molecular analysis of the chromosome 7 breakpoint [PDF]

, 2001
Dmitri Tentler, Göran Brandberg, Catalina Betancur, Christopher Gillberg, Göran Annerén, Christina Orsmark, Eric D. Green, Birgit Carlsson, Niklas Dahl   +8 more
openalex   +1 more source

Harnessing the Biological Responses Induced by Nanomaterials for Enhanced Cancer Therapy

Aggregate, EarlyView.
Nanomaterial (NM)‐induced toxicity can be strategically repurposed for cancer therapy. This review summarizes the mechanism by which NMs selectively activate specific cellular processes to regulate cell fate independently. We also discussed how NMs‐induced biological responses can be leveraged as therapeutic strategies for cancer treatment.
Liting Wang, Hao Fu, Jiangtao Lin, Meng Zhao, Chuanrong Chen, Hongze Liao, Yourong Duan   +6 more
wiley   +1 more source

A genome survey indicates a possible susceptibility locus for bipolar disorder on chromosome 22 [PDF]

, 2001
John R. Kelsoe, M. Anne Spence, Erika Loetscher, M. Foguet, A. Dessa Sadovnick, Ronald A. Remick, Pamela Flodman, Jason V. Khristich, Zofi Mroczkowski‐Parker, John Brown, Diane Masser, Sharon Ungerleider, Mark Hyman Rapaport, William Wishart, H. Luebbert   +14 more
openalex   +1 more source

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis, Beatriz Carvalho Nunes, Thainá Vilella, Rafaela Catelan Martins Pereira, Rui Fernando Pilotto, Lucimar Retto da Silva de Avó, Maria Isabel Melaragno, Carla Maria Ramos Germano, Débora Gusmão Melo   +8 more
wiley   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Relationship between chromosomal changes complexity and disease aggressiveness in myeloid and lymphoid disorders [PDF]

, 2002
Agripina Lungeanu, Aurora Arghir, Anca Roxana Lupu, Delia Mut Popescu, Nicoleta Berbec   +4 more
openalex   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p13.3-12.1

, 2000
G. N. KAVASLAR, Suna Önengüt, Orhan Derman, A. Kaya, Aslıhan Tolun   +4 more
openalex   +1 more source