Results 241 to 250 of about 159,772 (339)

Genome-wide identification of exon extension/shrinkage events induced by splice-site-creating mutations

, 2022
Zhuo Qu, Narumi Sakaguchi, Chie Kikutake, Mikita Suyama   +3 more
openalex   +1 more source

Compensatory Interplay Between Clarin‐1 and Clarin‐2 Deafness‐Associated Proteins Governs Phenotypic Variability in Hearing

Advanced Science, EarlyView.
Functional compensation between clarin‐1 and clarin‐2 in cochlear hair cells. Hearing loss associated with CLRN1 mutations shows striking phenotypic variability; however, the underlying mechanisms remain poorly understood. This study reveals that clarin‐1 and clarin‐2 function cooperatively in cochlear hair cells to sustain mechanoelectrical ...
Maureen Wentling, Aïda Yakhlef Sanchez, Nicolas Thelen, Müge Senarisoy, Maria Hogg, Steven Condamine, Andrea Lelli, Emilia Wysocka, Pranav Patni, Sandrine Vitry, Kerem Yasin Yildizhan, Sébastien Le Gal, Sylvie Nouaille, Michael R. Bowl, Marc Thiry, Didier Dulon, Sedigheh Delmaghani, Aziz El‐Amraoui   +17 more
wiley   +1 more source

A novel splice-site mutation in NFKB1 presenting as common variable immunodeficiency and postoperative hyperinflammation responsive to anti-IL-1 therapy. [PDF]

J Allergy Clin Immunol Pract
Eddens T, Lue J, Sojati J, Tomani M, Dede O, Kernan K, Kietz D, Larkin A, Chong H, Coffey K.   +9 more
europepmc   +1 more source

Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2. [PDF]

J Allergy Clin Immunol, 2021
Schim van der Loeff I, Sprenkeler EGG, Tool ATJ, Abinun M, Grainger A, Engelhardt KR, van Houdt M, Janssen H, Kuijpers TW, Hambleton S.   +9 more
europepmc   +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

A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism [PDF]

, 2010
Milena Gurgel Teles, Ericka Barbosa Trarbach, Sekoni D. Noel, Gil Guerra‐Júnior, Alexander A.L. Jorge, Daiane Beneduzzi, Suzy D.C. Bianco, Abir Mukherjee, M T M Baptista, Elaine Maria Frade Costa, Margaret de Castro, Berenice B. Mendonça, Ursula B. Kaiser, Ana Cláudia Latronico   +13 more
openalex   +1 more source

Impact of Mutational Landscape and Burden on RBC Transfusion Response in Patients With Lower‐Risk Myelodysplastic Syndromes (LR‐MDS) in the COMMANDS Study

American Journal of Hematology, EarlyView.
ABSTRACT The COMMANDS trial established luspatercept as a first‐line treatment for anemia in transfusion‐dependent lower‐risk (LR) myelodysplastic syndromes (MDS). Here we report red blood cell (RBC) transfusion response analysis based on somatic mutations profile and disease risk for patients treated with luspatercept or epoetin alfa in the COMMANDS ...
Rami S. Komrokji, Sheida Hayati, Manuel Ugidos, Guillermo Garcia‐Manero, Matteo Giovanni Della Porta, Amer M. Zeidan, Valeria Santini, Uwe Platzbecker, Anita K. Gandhi, Rajasekhar N. V. S. Suragani   +9 more
wiley   +1 more source

Additional file 2: of Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7

, 2016
Peter A. J. Leegwater, Manon Vos‐Loohuis, B.J. Ducro, I.J.M. Boegheim, Frank G. van Steenbeek, Isaäc J. Nijman, Glen R. Monroe, J.W.M. Bastiaansen, Bert Dibbits, Leanne Goor, Ids Hellinga, Willem Back, Anouk Schurink   +12 more
openalex   +1 more source

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

A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy. [PDF]

J Ophthalmic Vis Res
Molaei Ramshe S, Zardadi S, Alehabib E, Nourinia R, Jamshidi J, Soosanabadi M, Darvish H.   +6 more
europepmc   +1 more source