Results 81 to 90 of about 308,350 (333)

Structure‐Guided Engineering of a Cas12i Nuclease Unlocks Near‐PAMless Genome Editing

Advanced Science, EarlyView.
CRISPR‐Cas nucleases are limited by PAM requirements, restricting genome accessibility. Structure‐guided engineering of the compact Cas12i nuclease SF01 produced three variants with near‐PAMless, enabling efficient editing at diverse 5'‐NNTN‐3' sites. These nucleases expand the editable portion of the human genome more than fourfold, enabling efficient
Qitong Chen, Hanlin Gou, Chao Xu, Sihan Wang, Huitao Zhang, Minglei Song, Mengge Wang, Xingkun Ji, Xiaofei Wei, Yuanyan Tan, Hehua Quan, Pengyu Luo, Hanyu Shou, Pengpeng Liu, Yafeng Liang, Jian‐Kang Zhu   +15 more
wiley   +1 more source

Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene. [PDF]

, 2016
Occult macular dystrophy (OMD) is an inherited macular disease characterized by progressive visual decline with the absence of visible retinal abnormalities. Typical alterations of the retinal structure are detectable by spectral domain optical coherence
Colavito, Davide, Leon, Alberta, Miotto, Stefania, Piermarocchi, Stefano, Segato, Tatiana   +4 more
core   +1 more source

A Murine Database of Structural Variants Identifies A Candidate Gene for a Spontaneous Murine Lymphoma Model

Advanced Science, EarlyView.
We analyzed long‐read genomic sequencing data obtained from 40 inbred mouse strains to produce a large database of structural variants. This dataset captures the major types of structural variants, which includes deletions, insertions, duplications, and inversions.
Wenlong Ren, Zhuoqing Fang, Egor Dolzhenko, Christopher T. Saunders, Zhuanfen Cheng, Victoria Popic, Gary Peltz   +6 more
wiley   +1 more source

Amelogenesis Imperfecta - An account of Three Generations affected in a Family

Journal of Indian Academy of Oral Medicine and Radiology, 2004
Amelogenesis Imperfecta is a hereditary condition affecting dental enamel without any systemic manifestation. This condition can be inherited as either Autosomal or X-linked.
G Sarat, Arindam Sarkar, S Suhas, Keerthilatha M Pail   +3 more
doaj  

Defective axonal transport in motor neuron disease [PDF]

, 2007
Several recent studies have highlighted the role of axonal transport in the pathogenesis of motor neuron diseases. Mutations in genes that control microtubule regulation and dynamics have been shown to cause motor neuron degeneration in mice and in a ...
Baas, Blair, Boillee, Bommel, Borchelt, Bowling, Brown, Bruijn, Burger, Cao, Cleveland, Cleveland, Duchen, Escurat, Evans, Fichera, Fliegner, Gaudette, Goldstein, Hadano, Hafezparast, Hazan, Hirokawa, Hirokawa, Hirokawa, Jablonka, Joshi, Kanai, Kaplan, Kieran, King, Kong, LaMonte, Levy, Ligon, Liu, Lo Giudice, Lu, Martin, Miki, Miki, Mitsumoto, Mitsumoto, Muglia, Munch, Nicholson, Nishimura, Okabe, Otomo, Parkinson, Parysek, Pasinelli, Patel, Proukakis, Puls, Puls, Quenneville, Rao, Reid, Reid, Reid, Rosen, Ross, Rowland, Sanderson, Schmitt-John, Shaw, Shibata, Siegel, Song, Teuchert, Troy, Vallee, Weber, Williamson, Wood, Xia, Zhao   +77 more
core   +1 more source

Outcomes of Pancreas‐Sparing Total Duodenectomy for Severe Duodenal Polyposis in Patients With Familial Adenomatous Polyposis

Annals of Gastroenterological Surgery, EarlyView.
ABSTRACT Aim Spigelman stage IV duodenal polyposis (SP‐stage IV DP) is associated with high duodenal cancer risk in patients with familial adenomatous polyposis (FAP). This study evaluated the surgical and oncological outcomes of pancreas‐sparing total duodenectomy (PSTD) as a surgical prophylaxis for severe duodenal polyposis in FAP.
Takehiro Shiraishi, Hideyuki Ishida, Takatoshi Matsuyama, Noriyasu Chika, Yoshiko Mori, Norimichi Chiyonobu, Youichi Kumagai, Ibuki Fujinuma, Toshiro Ogura   +8 more
wiley   +1 more source

The Autosomal Dominant Dystonias

Brain Pathology, 1992
Dystonia is a term used to describe a specific set of abnormal movements that can occur as a symptom of a variety of neurologic disorders, but also as a disease entity in its own right. This review focuses on the primary dystonias and delineates the genetic contribution to these disorders.
T, Gasser, S, Fahn, X O, Breakefield
openaire   +2 more sources

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

American Journal of Hematology, EarlyView.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova, Dusan Hrckulak, Veronika Zimolova, Felipe R. Lorenzo, Jihyun Song, Katerina Vecerkova, Olga Babosova, Linda Berkova, Vladimir Korinek, Steve Elliott, Josef T. Prchal   +10 more
wiley   +1 more source

The calcilytic agent NPS 2143 rectifies hypocalcemia in a mouse model with an activating calcium-sensing-receptor (CaSR) mutation:relevance to autosomal dominant hypocalcemia type 1 (ADH1) [PDF]

, 2015
Autosomal dominant hypocalcemia type 1 (ADH1) is caused by germline gain-of-function mutations of the calcium-sensing receptor (CaSR) and may lead to symptomatic hypocalcemia, inappropriately low serum parathyroid hormone (PTH) concentrations and ...
Allen M. Spiegel, Breitwieser, Dong, Drude, Enikö Kallay, Fadil M. Hannan, Gerard V. Walls, Gowen, Hannan, Hannan, Harding, Hofer, Hough, Hu, Hu, Huang, Jianxin Hu, John, Kinoshita, Kumar, Leach, Leach, Letz, Letz, Lia-Baldini, Loupy, M. Andrew Nesbit, Miedlich, Nemeth, Nemeth, Nesbit, Pearce, Pearce, Petrel, Rajesh V. Thakker, Raue, Roger D. Cox, Stechman, Tertius A. Hough, Thim, Valerie N. Babinsky, Vargas-Poussou, Watanabe, William D. Fraser, Yamamoto   +44 more
core   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source