Results 221 to 230 of about 114,676 (292)

Germline mutations in Bos taurus

, 2018
De novo mutation (dnm) in the germline is a fundamental biological process that is the source of all population genetic variation. In this thesis, we have exploited the unique population structure of cattle to select pedigrees of three (parents, proband and >1 grand-offspring) and four (plus grandparents) generations to identify and characterise ...
openaire   +1 more source

Hemophilia A: An Ideal Disease for Prenatal Therapy

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemophilia A (HA) is the most common inherited coagulation defect. Current state‐of‐the‐art treatment consists of frequent administration of prophylactic infusions of coagulation factor VIII (FVIII) protein or bispecific antibodies that replace the cofactor function of FVIIIa to maintain hemostasis. However, these treatments are far from ideal,
Christopher D. Porada, Anthony Atala, Graça Almeida‐Porada   +2 more
wiley   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

A Novel Germline Mutation of BRCA1 and Integrated Analysis With Somatic Mutation in a Chinese Multi-Cancer Family. [PDF]

Oncologist
Yang X, Shang L, Yang L, Sun L, Tuo X, Ma S, Zhao L, Li X, Yang W.   +8 more
europepmc   +1 more source

Treatment Response and Outcomes of Prostate Cancer Patients Carrying the Germline MMS22L F722fs Mutation

The Prostate, EarlyView.
ABSTRACT Background Methyl Methanesulfonate‐Sensitivity Protein 22‐Like (MMS22L) plays a key role in homology‐directed DNA repair, and experimental models have shown that its loss confers sensitivity to Poly (ADP‐ribose) polymerase inhibitors (PARPi).
Mayuko Kanayama, Violet A. Daniels, Marta Gielzak, Alex Brame, Misop Han, Li Jia, Jianfeng Xu, Tamara L. Lotan, Mario A. Eisenberger, Catherine H. Marshall, Patrick C. Walsh, William B. Isaacs, Jun Luo   +12 more
wiley   +1 more source

Successful Treatment with Sirolimus of a Patient with a Novel CARD11 Germline Mutation in B-Cell Expansion with Nuclear Factor Kappa B and T-Cell Anergy: Case Report and Literature Review. [PDF]

J Clin Immunol
Nishinosono T, Muramatsu H, Wakamatsu M, Yamashita D, Fukasawa T, Shirakawa Y, Sajiki D, Maemura R, Tsumura Y, Yamamori A, Narita K, Kataoka S, Narita A, Nishio N, Miyajima Y, Takahashi Y.   +15 more
europepmc   +1 more source

Structural Modeling and Dynamics of the Full‐Length Homer1 Multimer

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT Homer proteins are modular scaffold molecules that constitute an integral part of the protein network within the postsynaptic density. Full‐length Homer1 forms a large homotetramer via a long coiled coil region, and can interact with proline‐rich target sequences with its globular EVH1 domain.
Zsófia E. Kálmán, András Czajlik, Brigitta Maruzs, Fanni Farkas, István Pap, Csilla Homonnay, Tomas Klumpler, Gyula Batta, Zoltán Gáspári, Bálint Péterfia   +9 more
wiley   +1 more source

Identification of a disease-associated germline mutation (A64T) of the ring finger protein 186 gene (<i>RNF186</i>) in Korean patients with ulcerative colitis. [PDF]

Genes Dis
Park SH, Won SY, Kim YC.
europepmc   +1 more source

Germline Mutations Related to Complete Remission after Neoadjuvant Chemotherapy in Patients with Triple-negative Breast Cancer [PDF]

Jee Hyun Ahn, Ji Soo Park, Dongju Won, Seung‐Tae Lee, Suk Jun Lee, Seung Hye Yang, Jee Ye Kim, Seho Park, Seung Il Kim, Byeong‐Woo Park, Min Hwan Kim, Gun Min Kim, Joohyuk Sohn, Hyung Seok Park   +13 more
openalex   +1 more source