Results 151 to 160 of about 116,502 (262)

Germline mutation rate is elevated in young and old parents in Caenorhabditis remanei. [PDF]

Evol Lett, 2023
Chen HY, Krieg T, Mautz B, Jolly C, Scofield D, Maklakov AA, Immler S.   +6 more
europepmc   +1 more source

Noncanonical Nucleotides in the Genome Around the Maternal‐Zygotic Transition

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
In this paper, Kazzazi et al. provide a comprehensive review of the dynamics of nonconventional nucleotides in the genome during early developmental stages, hypothesizing a potential role for these nucleotides in the activation of the zygotic genome. ABSTRACT From the very moment of fertilization and throughout development, the cells of animal embryos ...
Latifa Kazzazy, Dávid Mező, Kinga K. Nagy, Viktória Perey‐Simon, Judit Tóth, Angéla Békési, Beáta Vértessy, Máté Varga   +7 more
wiley   +1 more source

A case report of non‐syndromic colonic ganglioneuroma in a patient with juvenile polyposis

JPGN Reports, EarlyView.
Abstract Colonic ganglioneuromas in children are rare, particularly without associated hereditary syndromes like multiple endocrine neoplasia (MEN2B), neurofibromatosis type 1(NF1), or Phosphatase and tensin homolog hamartoma tumor syndrome (PHTS). We report a 12‐year‐old male with a history of juvenile polyposis syndrome (JPS) and segmental colonic ...
Holly Coffey, Kshitij Arora, Matthew J. Giefer   +2 more
wiley   +1 more source

Trio-sequencing Reveals High Germline Mutation Rates in the Colorado Potato Beetle (Leptinotarsa decemlineata). [PDF]

Genome Biol Evol
Xu S, Al-Madhagy S, Duchen P, Edison A.
europepmc   +1 more source

Hepatic Adenomas in Men: Diagnostic Considerations and Management in the Modern Era

Journal of Surgical Oncology, EarlyView.
ABSTRACT Hepatic adenomas (HAs) are rare benign liver tumors traditionally associated with young women, yet contemporary epidemiologic trends reveal increasing recognition among men. Historically, universal resection in males has been recommended because of a nearly tenfold increased risk of malignant transformation as reported by Farges et al.
Teresa Belledent, Julie Nwosu, Kiers Brevik, Raegen M. Abbey, Timothy Pawlik, Dae Sun Hwang, Terry L. Hayes, Ikenna Nwosu, Mohammed O. Suraju, Hassan Aziz   +9 more
wiley   +1 more source

First identification of the rare FH-Q185R germline mutation in a Chinese HLRCC patient: A case report and literature review. [PDF]

SAGE Open Med Case Rep
Zhang L, Gao G, Yuan M, Cui H, Zhu M, Ling B, Chen L, Liu H.   +7 more
europepmc   +1 more source

Autosomal Dominant Erythrocytosis Caused by Non-Renal Erythropoietin (EPO) Due to EPO c.-136 G>A Germline Mutation. [PDF]

Am J Hematol
Lanikova L, Hrckulak D, Zimolova V, Lorenzo FR, Song J, Vecerkova K, Babosova O, Berkova L, Korinek V, Elliott S, Prchal JT.   +10 more
europepmc   +1 more source

WDR72 Drives Esophageal Squamous Cell Carcinoma Progression by Inhibiting Autophagy via the PI3K/Akt/mTOR Pathway

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Esophageal squamous cell carcinoma (ESCC) is an aggressive malignancy with a high rate of recurrence and metastasis, necessitating the identification of novel therapeutic targets. WD repeat‐containing protein 72 (WDR72) has been linked to various cancers, but its specific biological function and underlying mechanism in ESCC remain largely ...
Hao Wu, Zhong‐Xiang Jiang, Zheng Jiang
wiley   +1 more source

Hepatocellular carcinoma arising from adenoma with ARID1A mutation in an adolescent patient with ATM germline mutation. [PDF]

J Surg Case Rep
Drda E, Ali S, Fadel H, Sun B, Elfar W.
europepmc   +1 more source

A case of homozygous germline mutation at the MLH3 splicing site causing infertility, colon polyposis with synchronous multiple colon cancers, and osteoma. [PDF]

Gastroenterol Rep (Oxf)
Gu J, Wang J, Zhou D, Jin H.
europepmc   +1 more source