Results 171 to 180 of about 78,400 (304)

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1934-1941, August 2026.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Hypotheses for the Adaptive Maintenance of Phenotypic Polymorphisms. [PDF]

Ecol Evol
Falk JJ, Webster MS, Rubenstein DR.
europepmc   +1 more source

Fitness costs associated with Vip3Aa resistance on various hosts in Helicoverpa zea

Pest Management Science, Volume 82, Issue 8, Page 7526-7534, August 2026.
Significant fitness costs associated with Vip3Aa resistance in H. zea were observed across three non‐Bt hosts. Abundant non‐Bt refuges could help limit the spread of Vip3Aa resistance in H. zea in the field. Abstract BACKGROUND Transgenic crops containing Bacillus thuringiensis (Bt) proteins are crucial for managing major agricultural pests such as the
Haley Kennedy, David L Kerns, Graham P Head, Fei Yang   +3 more
wiley   +1 more source

Familial hypobetalipoproteinemia in pediatric patients with fatty liver: an under-recognized cause. [PDF]

Front Med (Lausanne)
Loberman Nachum N, Shteyer E, Cohen H, Chorin O, Granot M, Weiss B.   +5 more
europepmc   +1 more source

Distribution and frequency of Vkorc1 polymorphisms in house mice and Norway rats in the northeastern United States

Pest Management Science, Volume 82, Issue 8, Page 7700-7710, August 2026.
This study assesses the distribution and frequency of Vkorc1 polymorphisms in house mice and Norway rats in northeastern USA. House mice showed higher frequency of Vkorc1 mutations than Norway rats. The A32V and Y139F mutations are first reported in mice, and the L128V is newly reported in Norway rats.
Jin‐Jia Yu, Alvaro Toledo, Adrienne E Kasprowicz, Megan V Phifer‐Rixey, Xiaodan Pan, Babatunji Daramola, Changlu Wang   +6 more
wiley   +1 more source

Papillary Thyroid Carcinoma, Bilateral Macronodular Adrenal Cortical Disease-Related Cortisol Excess, and Femoral Enchondroma: A Novel Phenotype-Genotype Based on Next-Generation Sequencing (Variants of <i>APC, MSH6</i>, and <i>CACNA1S</i> Genes). [PDF]

Diagnostics (Basel)
Carsote M, Schipor SV, Dumitrascu A, Gheorghe AM, Sima OC, Manda D, Costachescu M, Muresan A, Preda EM, Terzea D.   +9 more
europepmc   +1 more source

Phenotypic Expansion and Molecular Implications in Recessive FUZ ‐Related Ciliopathy

Clinical Genetics, Volume 110, Issue 2, Page 236-241, August 2026.
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa, Shota Kato, Kazuhiro Shiraga, Motohiro Kato, Ryo Inuzuka   +4 more
wiley   +1 more source

Estimating Effective Number of Breeders Under the Heterozygote-Excess Equilibrium. [PDF]

Mol Ecol Resour
Yang B, Wang D, Shen Y, Li W, Wang H, Wang R, Peng R, Zhang S, Xia Z, Dunn DW, Huang K, Li B.   +11 more
europepmc   +1 more source

A novel, PCP‐dependent tissue organising principle coordinating morphogenesis between embryonic skin epidermal layers

Journal of Anatomy, Volume 249, Issue 2, Page 417-434, August 2026.
‘Outside‐in’ expression of Fz6 across multiple layers of mouse embryo epidermis is connected to Fz6 asymmetry in the basal layer plane. Fz6 loss‐of‐function correlated with failure to: coordinate axial bias of cell long axis orientation across epidermal layers, switch axial cell long axis orientation during suprabasal layer development and establish ...
C. J. Formstone
wiley   +1 more source

Significant improvement following intravenous zoledronate therapy in Bruck syndrome 2 due to a rare <i>PLOD2</i> gene variant. [PDF]

JCEM Case Rep
Patra S, Roy A, Giri S, Tahaseen SM, Nandi D.   +4 more
europepmc   +1 more source