Results 91 to 100 of about 1,792 (176)

Genome-wide association analysis of thirty one production, health, reproduction and body conformation traits in contemporary U.S. Holstein cows [PDF]

, 2011
Background Genome-wide association analysis is a powerful tool for annotating phenotypic effects on the genome and knowledge of genes and chromosomal regions associated with dairy phenotypes is useful for genome and gene-based selection.
John B Cole, George R Wiggans, Li Ma, Tad S Sonstegard, Thomas J Lawlor, Brian A Crooker, Curtis P Van Tassell, Jing Yang, Shengwen Wang, Lakshmi K Matukumalli, Yang Da   +10 more
core   +1 more source

Differential expression of dystonin in human epithelial ovarian cancer.

, 2021
Shahan Mamoor
openalex   +2 more sources

Cold cases in epidermolysis bullosa: not the usual suspects [PDF]

, 2018
De belangrijkste bevindingen van dit proefschrift waren de identificatie van de onderliggende genetische mutatie en karakterisatie van het klinische fenotype van onze 'cold case' patiënten met epidermolysis bullosa (EB) van het Nederlandse nationale EB ...
Turcan, Iana
core   +4 more sources

Diverse dystonin gene mutations cause distinct patterns of [PDF]

, 2020
Loss-of-function mutations in dystonin (DST) can cause hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) or epidermolysis bullosa simplex (EBS).
Abe, Riichiro, Bizen, Norihisa, Kabata, Yudai, Kuriyama, Momona, Sproule, Thomas J, Takebayashi, Hirohide, Tran, Dang M, Ushiki, Tatsuo, Yano, Masato, Yoshiki, Atsushi, Yoshioka, Nozomu, Zhou, Li   +11 more
core   +1 more source

A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex [PDF]

, 2010
Richard Groves, Lu Liu, Patricia J.C. Dopping-Hepenstal, Hugh S. Markus, Patricia A. Lovell, Linda Ozoemena, Joey E. Lai‐Cheong, J Gawler, Katsushi Owaribe, Takashi Hashimoto, Jemima E. Mellerio, John Mee, John A. McGrath   +12 more
openalex   +1 more source

The EF-hand Ca²⁺-binding protein super-family: A genome-wide analysis of gene expression patterns in the adult mouse brain [PDF]

, 2015
In mice, 249 putative members of the superfamily of EF-hand domain Ca²⁺-binding proteins, manifesting great diversity in structure, cellular localization and functions have been identified.
Celio, Marco R., Girard, FFranck, Schwaller, Beat, Venail, J.   +3 more
core  

Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI [PDF]

, 2018
Paola Fortugno, Francesco Angelucci, Gianluca Cestra, Letizia Camerota, Angelo Salvatore Ferraro, Sonia Cordisco, Luigi Uccioli, Daniele Castiglia, Barbara De Angelis, Ingo Kurth, Uwe Kornak, Francesco Brancati   +11 more
openalex   +1 more source

Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI [PDF]

, 2013
Andrew Ferrier, Tomoki Sato, Yves De Repentigny, Sabrina Gibeault, Kunal Bhanot, Ryan W. O’Meara, Anisha Lynch‐Godrei, Samantha F. Kornfeld, Kevin G. Young, Rashmi Kothary   +9 more
openalex   +1 more source

Bullous Pemphigoid Limited to the Hands and Feet: A Rare Case of an Infantile Disease Pattern Seen in an Elderly Patient. [PDF]

Cureus, 2023
Nellore A, Burkemper N, Abate M.
europepmc   +1 more source

Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity. [PDF]

Diagnostics (Basel), 2022
Pânzaru MC, Caba L, Florea L, Braha EE, Gorduza EV.   +4 more
europepmc   +1 more source