Results 131 to 140 of about 5,995,584 (403)

Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Synpolydactyly (SPD) is a heterogeneous distal‐limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease‐causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome‐negative
Jonathan Rips, Rivka Birnbaum, Chaim Jalas, Ayala Frumkin, Shamir Zenvirt, Julia Rachanaev, Avraham Shaag, Tamar Harel, Orly Elpeleg, Hagar Mor‐Shaked   +9 more
wiley   +1 more source

Trithorax group proteins: switching genes on and keeping them active [PDF]

, 2011
Cellular memory is provided by two counteracting groups of chromatin proteins termed Trithorax group (TrxG) and Polycomb group (PcG) proteins. TrxG proteins activate transcription and are perhaps best known because of the involvement of the TrxG protein ...
Cavalli, G., Iovino, N., Martinez, A., Schuettengruber, B.   +3 more
core   +1 more source

Cell surface proteins Nasrat and Polehole stabilize the Torso-like extracellular determinant in Drosophila oogenesis.

Genes & Development, 2002
Structural cell-surface and extracellular-matrix proteins modulate intercellular signaling events during development, but how this is achieved remains largely unknown. Here we identify a novel family of Drosophila proteins, Nasrat and Polehole, that coat
G. Jiménez, A. González-Reyes, J. Casanova   +2 more
semanticscholar   +1 more source

A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Non‐syndromic Retinitis Pigmentosa (NsRP) was well known as one of the causes of visual impairment already in the 19th century. Giuseppe Albertotti, Professor of Ophthalmology at the University of Modena (Italy) in 1893, described a high prevalence of NsRP in a geographic isolate, the small village of Colloro, in northwestern Italy.
Andrea Guala, Fabio Sirchia, Claudia Scotti, Elena Rossi, Roberta Falcioni, Silvano Ragozza, Antonella Casella, Enza Maria Valente, Cesare Danesino   +8 more
wiley   +1 more source

Splicing factors Sf3A2 and Prp31 have direct roles in mitotic chromosome segregation [PDF]

, 2018
Several studies have shown that RNAi-mediated depletion of splicing factors (SFs) results in mitotic abnormalities. However, it is currently unclear whether these abnormalities reflect defective splicing of specific pre-mRNAs or a direct role of the SFs ...
Alushin, Antrobus, Auckland, Beyer, Blower, Blower, Bobkov, Bonaccorsi, Buffin, Burns, Buttrick, Chase, Ciferri, Conduit, De Renzis, DeLuca, DeLuca, Feijão, Giansanti, Giansanti, Giansanti, Giet, Goshima, Goto, Grenfell, Grenfell, Guilgur, Hanisch, Harel, Hayward, Heeger, Helgeson, Herold, Hofmann, Hofmann, Huranová, Janczyk, Khodor, Kiseleva, Kittler, Lehner, Liu, Maslon, Montembault, Neumann, Nguyen, Pacheco, Peretz, Przewloka, Raffa, Renda, Rogers, Roscioli, Rošić, Schittenhelm, Schweizer, Sharp, Shin, Silljé, Somma, Somma, Sundaramoorthy, Tadros, Takenaka, Tanenbaum, Toso, van der Lelij, Varma, Venkei, Vernì, Walker, Williams, Williams, Wu, Zalokar   +74 more
core   +1 more source

Scrambled Eggs: Apoptotic cell clearance by non-professional phagocytes in the Drosophila ovary [PDF]

, 2017
This manuscript was supported by NIH grant R01 GM060574 to KM.
McCall, Kimberly, Serizier, Sandy B.
core   +1 more source

Interaction between an Integral Protein of the Nuclear Envelope Inner Membrane and Human Chromodomain Proteins Homologous to Drosophila HP1*

Journal of Biological Chemistry, 1996
At the nuclear envelope in higher eukaryotic cells, the nuclear lamina and the heterochromatin are adjacent to the inner nuclear membrane, and their attachment is presumably mediated by integral membrane proteins.
Q. Ye, H. Worman
semanticscholar   +1 more source

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source

Phosphorylation of Pnut in the Early Stages of Drosophila Embryo Development Affects Association of the Septin Complex with the Membrane and Is Important for Viability

G3: Genes, Genomes, Genetics, 2018
Septin proteins are polymerizing GTPases that are found in most eukaryotic species. Septins are important for cytokinesis and participate in many processes involving spatial modifications of the cell cortex. In Drosophila, septin proteins Pnut, Sep1, and
Katarina Akhmetova, Maxim Balasov, Anton Svitin, Elena Chesnokova, Matthew Renfrow, Igor Chesnokov   +5 more
doaj   +1 more source

A Drosophila model of prion disease and its metabolic changes in the brain

Animal Models and Experimental Medicine, EarlyView.
We developed a Drosophila model for prion disease, and flies were capable of expressing the hamster prion protein (HaPrP) under the control of the GAL4/UAS system. The model exhibited some characteristics of the disease in mammals and displayed alterations in protein, sphingolipid, and carbohydrate metabolism. Preliminary applications have demonstrated
Dongdong Wang, Zhixin Sun, Pei Wen, Mengyang Zhao, Yuheng He, Fengting Gou, Jingjing Wang, Qing Fan, Xueyuan Li, Tianying Ma, Xiaoyu Wang, Wen Li, Sen Chen, Deming Zhao, Lifeng Yang   +14 more
wiley   +1 more source