Results 191 to 200 of about 413,811 (335)

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source

A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary nonsyndromic hearing loss (NSHL) is a prevalent entity associated with over 150 known causative genes, including LMX1A, which has fewer than 10 reported pathogenic variants. Here we present a novel missense variant in LMX1A in a family of European descent with hereditary hearing loss. Clinical and family histories were obtained, and
Ryan Chen, Dayna Morel Swols, Guney Bademci, Mustafa Tekin   +3 more
wiley   +1 more source

Molecular Profiling of Genes Associated With Methylphenidate Pathway Therapy and Discovery of New Variants in Amazonian Amerindian Populations

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In Attention Deficit Hyperactivity Disorder (ADHD), methylphenidate is one of the most widely used drugs, in which patient response significantly impacts prognosis. This study aimed to characterize the molecular profile of 10 genes associated with methylphenidate therapy.
Aline Pasquini Santos, Tatiane Carinta de Souza, Kaio Evandro Cardoso Aguiar, Ana Caroline Alves da Costa, Natasha Monte, Juliana Carla Gomes Rodrigues, Giovanna Gilioli da Costa Nunes, Rita de Cássia Calderaro Coelho, Ândrea Ribeiro‐dos‐Santos, André Maurício Ribeiro dos Santos, Sandro José de Souza, Sidney Emanuel Batista dos Santos, Rommel Mario Rodriguez Burbano, Marianne Rodrigues Fernandes, Ney Pereira Carneiro dos Santos   +14 more
wiley   +1 more source

Detection of leukemia gene fusions on DNA-level through targeted Next-Generation Sequencing. [PDF]

PLoS One
Chen B, Gao Z, Chen L, Zhang H, Lin Y, Li J.   +5 more
europepmc   +1 more source

Splicing of group II introns in mRNAs coding for cytochrome b₆ and subunit IV in the liverwort Marchantia polymorpha chloroplast genome Exon specifying a region coding for two genes with the spacer region

, 1987
Hideya Fukuzawa, Tadashi Yoshida, Takayuki Kohchi, Takeshi Okumura, Yasuji Sawano, Kanji Ohyama   +5 more
openalex   +1 more source

Identification of a phenotype-specific enhancer in the first intron of the rat collagen II gene. [PDF]

, 1987
Walter E. Horton, Tomoyuki Miyashita, Kimitoshi Kohno, John R. Hassell, Yasuhiro Yamada   +4 more
openalex   +1 more source

Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé, Lucía García‐DeLaFuente, Alejandro García‐Álvarez, Ginesa García‐Rostán, Jaume Capdevila, Jorge Hernando   +5 more
wiley   +1 more source

Synthesis, Biological Activity, and Molecular Dynamics Simulations of LNA‐Charge Neutral Linkages for Enhanced Splice‐Switching Antisense Oligonucleotides

Angewandte Chemie, EarlyView.
Splice‐switching oligonucleotides are used to treat severe genetic conditions including Duchenne Muscular Dystrophy, but new chemistries are urgently required to improve their efficacy. In this work locked nucleic acid (LNA) is coupled to different charge neutral DNA backbones which are studied by structural, thermodynamic, and biological methods.
Alice Kennett, Lillian Lie, Martin Flerin, Belma Zengin Kurt, Ysobel R. Baker, Alyssa C. Hill, Abinaya Ramesh, Matthew J.A. Wood, Debashis Dhara, Afaf H. El‐Sagheer, Fernanda Duarte, Tom Brown   +11 more
wiley   +2 more sources

UCP3 gene variants and obesity in a Pakistani sample population. [PDF]

Sci Rep
Bhatti AA, Rana S, Khalid M, Nawaz H, Irfan M.   +4 more
europepmc   +1 more source

Structure of the human phosphoglycerate kinase gene and the intron-mediated evolution and dispersal of the nucleotide-binding domain.

, 1985
Alan M. Michelson, Caroline Blake, Samuel Evans, Stuart H. Orkin   +3 more
openalex   +1 more source