Results 101 to 110 of about 2,008 (179)

Combining Genome Wide Association Studies and Differential Gene Expression Data Analyses Identifies Candidate Genes Affecting Mastitis Caused by Two Different Pathogens in the Dairy Cow [PDF]

, 2015
Mastitis is a costly disease which hampers the dairy industry. Inflammation of the mammary gland is commonly caused by bacterial infection, mainly Escherichia coli, Streptococcus uberis and Staphylococcus aureus.
Chen, X, Cheng, Z R, Wathes, D C, Werling, D, Zhang, S   +4 more
core   +3 more sources

Exploring the diverse clinical and variant spectrum of CEP78‐associated syndrome: Novel pathogenic variants identified in a case series

American Journal of Medical Genetics Part A, Volume 194, Issue 10, October 2024.
Abstract Dual sensory impairment, commonly referred to as combined hearing and vision loss, can stem from a diverse spectrum of conditions, each presenting with its unique set of clinical characteristics. Our understanding of dual sensory impairment has expanded significantly in the past decade, broadening the scope of genetic differential diagnoses ...
Yi Zhai, Brian G. Ballios
wiley   +1 more source

Exploring the Potential and Challenges of CRISPR Delivery and Therapeutics for Genetic Disease Treatment

Advanced Functional Materials, Volume 34, Issue 38, September 18, 2024.
The review outlines CRISPR's historical progression and highlights advancements in gene editing methods and delivery vehicles. It discusses CRISPR's therapeutic applications for genetic diseases affecting multiple systems like the muscular, cardiovascular, and neurological systems with a focus on inherited blood disorders and eye diseases.
Xinpu Yang, Thuy Anh Bui, Haoqi Mei, Yagiz Alp Aksoy, Fei Deng, Gyorgy Hutvagner, Wei Deng   +6 more
wiley   +1 more source

Beyond the phenotype: Exploring inherited retinal diseases with targeted next‐generation sequencing in a Turkish cohort

Clinical Genetics, Volume 106, Issue 3, Page 258-266, September 2024.
The objective of this study is to clarify the genetic foundation of hereditary retinal diseases in a Turkish population by gathering data from 354 probands. Using the panel‐based NGS method, 103 genes were assessed, resulting in a diagnostic success rate of 58.1%.
Busra Ozguc Caliskan, Kubra Uslu, Neslihan Sinim Kahraman, Kuddusi Erkilic, Ayse Oner, Munis Dundar   +5 more
wiley   +1 more source

Autozygome‐guided exome‐first study in a consanguineous cohort with early‐onset retinal disease uncovers an isolated RIMS2 phenotype and a retina‐enriched RIMS2 isoform

Clinical Genetics, Volume 106, Issue 2, Page 127-139, August 2024.
Autozygome‐guided whole exome sequencing (WES) in Saudi families with early‐onset inherited retinal disease revealed a diagnosis in 73%. Genotype‐driven clinical reclassifications showed a novel genotype–phenotype association for non‐syndromic RIMS2‐IRD.
Marta Del Pozo‐Valero, Basamat Almoallem, Alfredo Dueñas Rey, Quinten Mahieu, Mattias Van Heetvelde, Laila Jeddawi, Miriam Bauwens, Elfride De Baere   +7 more
wiley   +1 more source

Dysfunction of outer segment guanylate cyclase caused by retinal disease related mutations

Frontiers in Molecular Neuroscience, 2014
Membrane bound guanylate cyclases are expressed in rod and cone cells of the vertebrate retina and mutations in several domains of rod outer segment guanylate cyclase 1 (ROS-GC1 encoded by the gene GUCY2D) correlate with different forms of retinal ...
Patrick eZägel, Karl-Wilhelm eKoch
doaj   +1 more source

Clinical Pharmacology Perspective on Development of Adeno‐Associated Virus Vector‐Based Retina Gene Therapy

Clinical Pharmacology &Therapeutics, Volume 115, Issue 6, Page 1212-1232, June 2024.
Adeno‐associated virus (AAV) vector‐based gene therapy is an innovative modality being increasingly investigated to treat diseases by modifying or replacing defective genes or expressing therapeutic entities. With its unique anatomic and physiological characteristics, the eye constitutes a very attractive target for gene therapy.
Jennifer Lynn Ford, Eleni Karatza, Hardik Mody, Prathap Nagaraja Shastri, Sana Khajeh Pour, Tong‐Yuan Yang, Michael Swanson, Daniel Chao, Damayanthi Devineni   +8 more
wiley   +1 more source

Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal Disorder

Translational Vision Science & Technology, 2020
To determine the clinical and genetic characteristics of patients with GUCY2D-associated retinal disorder (GUCY2D-RD).Fifteen patients from 12 families with inherited retinal disorder (IRD) and harboring GUCY2D variants were ascertained from 730 Japanese families with IRD.
Liu, Xiao, Fujinami, Kaoru, Kuniyoshi, Kazuki, Kondo, Mineo, Ueno, Shinji, Hayashi, Takaaki, Mochizuki, Kiyofumi, Kameya, Shuhei, Yang, Lizhu, Fujinami-Yokokawa, Yu, Arno, Gavin, Pontikos, Nikolas, Sakuramoto, Hiroyuki, Kominami, Taro, Terasaki, Hiroko, Katagiri, Satoshi, Mizobuchi, Kei, Nakamura, Natsuko, Yoshitake, Kazutoshi, Miyake, Yozo, Li, Shiying, Kurihara, Toshihide, Tsubota, Kazuo, Iwata, Takeshi, Tsunoda, Kazushige   +24 more
openaire   +2 more sources

Degeneration of the olfactory guanylyl cyclase D gene during primate evolution.

PLoS ONE, 2007
BackgroundThe mammalian olfactory system consists of several subsystems that detect specific sets of chemical cues and underlie a variety of behavioral responses.
Janet M Young, Hang Waters, Cora Dong, Hans-Jürgen Fülle, Emily R Liman   +4 more
doaj   +1 more source

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin [PDF]

, 2015
Purpose: To investigate the molecular basis of retinitis pigmentosa in two consanguineous families of Pakistani origin with multiple affected members.
Abdelhamed, Z, Ali, M, Ansar, M, Baumann, B, Black, GCM, Bonin, M, Din, MA-U, El Asrag, ME, Inglehearn, CF, McKibbin, M, O Sullivan, J, Panagiotou, ES, Poulter, JA, Ravesh, Z, Reuter, P, Sajid, S, Soltanifar, M, Toomes, C, Watson, CM, Weisschuh, N, Wissinger, B   +20 more
core   +1 more source