Results 121 to 130 of about 538,877 (242)

A Spotlight on Yolk‐sac Tumors: Molecular Pathology, Current Diagnostics, and Novel Therapeutics

Andrology, EarlyView.
ABSTRACT Background Yolk‐sac tumors are an aggressive subtype of testicular cancer that significantly contribute to disease progression and therapy resistance, especially in adults. While testicular cancer generally has high cure rates with cisplatin‐based treatment, adult yolk‐sac tumors often appear as components of mixed tumors with poor response to
Evangelos Prokakis, Lisa Schneider, Felix Bremmer, Daniel Nettersheim   +3 more
wiley   +1 more source

Sperm Mitochondrial DNA Copy Number and Nuclear DNA Methylation Across Clinical and Non‐Clinical Preconception Cohorts

Andrology, EarlyView.
ABSTRACT Background Sperm mitochondrial DNA copy number is an emerging marker of male fertility, with elevated mtDNAcn associated with poor semen quality across various populations. Sperm DNA methylation has also been previously demonstrated to be negatively correlated with semen parameters in IVF cohorts.
Savni Sawant, Karolina Nowak, Amanda L. Paskavitz, Emily Houle, Ricardo P. Bertolla, Lidia Minguez‐Alarcon, Russ Hauser, J. Richard Pilsner   +7 more
wiley   +1 more source

Genomic imprinting: mom and dad (epi) genetics

, 1999
Genomic imprinting is an epigenetic chromosomal modification in the gametes or zygotes that results in a non-random monoallelic expression of specific autosomal genes depending upon their parent of origin.
Kumar, Arun
core  

Male Mice Heterozygous for Protamine 1 and Protamine 2 Are Infertile, Displaying Sperm Damage and Retention of Protamine 2 Precursors, Transition Proteins, and Histones

Andrology, EarlyView.
ABSTRACT Background During spermiogenesis, protamines (PRMs) replace histones to hypercondense and protect sperm DNA. Rodents and primates express two PRMs (PRM1 and PRM2). Alterations of species‐specific PRM ratios are associated with sub‐ or infertility in mice and humans.
Gina Esther Merges, Christoph Wiesejahn, Mar Domingo‐Lopez, Simon Schneider, Andjela Kovacevic, Lena Arévalo, Hubert Schorle   +6 more
wiley   +1 more source

Clinical Significance of a Cell‐Of‐Origin‐Based Classification in Pancreatic Ductal Adenocarcinoma

Cancer Science, EarlyView.
Schematic overview of a cell‐of‐origin‐based classification of pancreatic ductal adenocarcinoma (PDAC), highlighting distinct biological features and therapeutic implications of Acinar‐ and Ductal‐subtypes. ABSTRACT Pancreatic ductal adenocarcinoma (PDAC) remains one of the most lethal malignancies, with limited therapeutic options and poor clinical ...
Tatsuya Kikuchi, Soichiro Ako, Hironari Kato, Hideaki Kinugasa, Masaki Uchida, Takashi Oda, Ryosuke Hirai, Akihiro Matsumi, Kazuya Miyamoto, Hiroyuki Terasawa, Yuki Fujii, Daisuke Uchida, Kazuyuki Matsumoto, Koichiro Tsutsumi, Shigeru Horiguchi, Kazuya Yasui, Tomokazu Fuji, Kosei Takagi, Hirokazu Kato, Tomoyuki Honda, Fumio Otsuka, Motoyuki Otsuka   +21 more
wiley   +1 more source

Genomic imprinting

, 2002
Genomic imprinting represents an epigenetic marking of genes that results in their monoallelic expression, namely in mammals and flowering plants.
Vyskot, Boris
core  

Global Recommendations for the Use of Diagnostic Genomic Sequencing in the Prenatal Setting on Behalf of the ESHG and ISPD

Prenatal Diagnosis, EarlyView.
Zandra C. Deans, Lina Basel Salmon, Kwong Wai Choy, Guido de Wert, Zirui Dong, Lilian Downie, Francesca Romana Grati, Sabine Hentze, Paula Jorge, Brynn Levy, Luca Lovrecic, Dora Mayen, Álvaro Mendes, Michael Morris, Ashley Pritchard, Raquel Gouveia Silva, Tina‐Marié Wessels, Francesca Forzano, Natalie J. Chandler   +18 more
wiley   +1 more source

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

Clinical Genetics, EarlyView.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady, Hadar Hulin Ma'ayan, Michal Cohen, Karin Weiss   +3 more
wiley   +1 more source

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long‐Read Sequencing

Clinical Genetics, EarlyView.
Pathogenic IGF2 variants on the paternal allele can cause Silver–Russell syndrome, with highly variable growth and neurodevelopmental outcomes. Long‐read sequencing can determine the parental origin of de novo IGF2 variants via methylation patterns without parental samples, improving diagnostics for imprinted genes.
Trine Maxel Juul, Susanne Eriksen Boonen, Katja Venborg Pedersen, Caroline Hey Bækgaard, Martin Larsen, Maria Kibæk, Niels Illum, Malene Heideman, Christiane Nielsen, Emilie Boye Lester, Christina Fagerberg   +10 more
wiley   +1 more source

Genomic imprinting and carcinogenesis [PDF]

, 2011
The Mendelian inheritance is based on the fundamental rule in which mammalian genes are expressed equally from two homologous biparental alleles. Recently a small number of genes have been identified to show an exception to this rule in that homologous ...
Yun, Kankatsu
core   +1 more source