Results 51 to 60 of about 7,438 (233)

Enhancing Functional Protein Design Using Heuristic Optimization and Deep Learning for Anti‐Inflammatory and Gene Therapy Applications

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT Protein sequence design is a highly challenging task, aimed at discovering new proteins that are more functional and producible under laboratory conditions than their natural counterparts. Deep learning‐based approaches developed to address this problem have achieved significant success.
Ayşenur Soytürk Patat, Özkan Ufuk Nalbantoğlu   +1 more
wiley   +1 more source

A historical perspective on Lionel Penrose: Scientist, geneticist and dedicated opponent of eugenics

Annals of Human Genetics, EarlyView.
Abstract The paper explores Lionel Penrose's scientific work. Penrose investigated the causes of mental disorders from clinical and genetic points of view. His investigations on phenylketonuria and Down syndrome helped to demonstrate the heterogenous character of mental disorders, whose causes can range from genetic with high penetrance, to largely ...
Maria Kiladi
wiley   +1 more source

Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles

Iranian Journal of Medical Sciences, 2018
Phenylketonuria (PKU) is one of the most common known inherited metabolic diseases. The present study aimed to investigate the status of molecular defects in phenylalanine hydroxylase (PAH) gene in western Iranian PKU patients (predominantly from ...
Reza Alibakhshi, Keivan Moradi, Mostafa Biglari, Samaneh Shafieenia   +3 more
doaj  

Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study

Journal of Diabetes Investigation, EarlyView.
Previous studies have identified pathogenic variants in 22% of Caucasian patients with diabetic kidney disease (DKD); however, this proportion may vary depending on ethnicity and updates to the database. Whole‐genome sequencing of 79 patients with DKD in Japan revealed that 34.1% had kidney‐related heterozygous pathogenic variants, and 12.7% had ...
Toyohiro Hashiba, Yuka Sugawara, Yosuke Hirakawa, Dai Sato, Reiko Inagi, Masaomi Nangaku   +5 more
wiley   +1 more source

How Does Neural Network Reparametrization Improve Geophysical Inversion?

Journal of Geophysical Research: Machine Learning and Computation, Volume 2, Issue 2, June 2025.
Abstract Full waveform inversion (FWI) is a high‐resolution seismic inversion technique and great efforts have been made to mitigate the multi‐solution problem, such as the traditional total variation (TV) regularization. Different from traditional regularization, a new regularization design approach named neural network (NN) reparametrization (Deep ...
Yuping Wu, Jianwei Ma
wiley   +1 more source

SCIENTIFIC CONTRIBUTION TO TECHNOLOGICAL INNOVATION: ANALYSIS OF RESEARCH STRATEGIES IN REFERENCE DATABASES. [PDF]

, 2021
Tesis doctoral en período de exposición públicaDoctorado en Tecnología de Invernaderos e Ingeniería Industrial (RD99/11 ...
Cascajares Rupérez, Milagros
core  

An overview of current prenatal genetic screening and diagnosis guidelines

Pregnancy, Volume 1, Issue 3, May 2025.
Abstract The landscape of prenatal genetics continues to evolve rapidly, with improvements in processing speed and technology. Clinicians are tasked with staying current with the latest recommendations for prenatal genetic screening and diagnosis in order to provide patient‐centered and evidence‐based care. We present a review of 15 societal guidelines
Carmen M. A. Santoli, Sarah K. Dotters‐Katz, Teresa N. Sparks, Jeffrey A. Kuller   +3 more
wiley   +1 more source

Evolution of the screening program for congenital hypothyroidism and phenylketonuria in Sergipe State from 1995 to 2003 [PDF]

, 2004
Avaliamos o tempo gasto nas diferentes etapas do Programa de Triagem para o Hipotireoidismo Congênito (HC) e Fenilcetonúria (PKU), sua cobertura e a freqüência em Sergipe, de 1998 a 2003, e comparamos com 1995.
Oliveira, Carla Raquel Pereira, Oliveira, Manuel Herminio de Aguiar, Ramalho, Antônio Roberto de Oliveira, Ramalho, Roberto Jose Rabelo   +3 more
core   +1 more source

The nutritional profiling of special feeds for phenylketonuria [PDF]

, 2021
In children with classical phenylketonuria (PKU), a lifelong low phenylalanine diet is the only treatment option with natural protein (phenylalanine) intake restricted to < 20% of safe recommended intake [1] to minimise neurological damage. The diet must
Daly, Anne
core  

New challenges in management of phenylketonuria in pregnancy: a case report. [PDF]

J Med Case Rep, 2023
Ugalde-Abiega B, Stanescu S, Belanger A, Martinez-Pardo M, Arrieta F.   +4 more
europepmc   +1 more source