Results 111 to 120 of about 115,560 (292)

LRRK2 as a Potential Disease‐Modifying Target in Sporadic Parkinson's Disease

Movement Disorders, EarlyView.
Abstract A growing understanding of the role that leucine‐rich repeat kinase 2 (LRRK2) plays in Parkinson's disease (PD) supports continued focus on this enzyme as a therapeutic target for PD. Accumulating evidence suggests that there are phenotypic, neuropathologic, and biological similarities between sporadic PD (sPD) and familial forms in which ...
Anthony E. Lang, Robert A. Hauser, Lorraine V. Kalia, Bonnie Hersh, Zdenek Berger, Roy Llorens Arenas, Coro Paisan‐Ruiz, Kyle Fraser, Danna Jennings, Jillian H. Kluss, Sarah Huntwork‐Rodriguez, Anastasia G. Henry, J. Timothy Greenamyre   +12 more
wiley   +1 more source

Developmental genetics of chromosome I spermatogenesis-defective mutants in the nematode Caenorhabditis elegans. [PDF]

, 1988
Steven W. L’Hernault, Diane C. Shakes, Samuel Ward   +2 more
openalex   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

LARP7 is required for sex chromosome silencing during meiosis in mice.

PLoS ONE
Meiotic sex chromosome inactivation (MSCI) is an essential event in meiotic progression in mammalian spermatogenesis. We found that La Ribonucleoprotein 7 (LARP7) is involved in MSCI. LARP7 plays a role in fetal germ cells to promote their proliferation,
Yukiko Tando, Atsuto Nonomura, Yumi Ito-Matsuoka, Asuka Takehara, Daiji Okamura, Yohei Hayashi, Yasuhisa Matsui   +6 more
doaj   +1 more source

Ultrasonographically detectable markers of fetal chromosomal defects [PDF]

Ultrasound in Obstetrics & Gynecology, 1993
K, Nicolaides, L, Shawwa, M, Brizot, R, Snijders   +3 more
openaire   +2 more sources

Defective double-strand DNA break repair and chromosomal translocations by MYC overexpression

, 2003
Åsa Karlsson, Debabrita Deb-Basu, Athena M. Cherry, Stephanie Turner, James M. Ford, Dean W. Felsher   +5 more
openalex   +2 more sources

Chromosomal Instability Syndrome of Total Premature Chromatid Separation with Mosaic Variegated Aneuploidy Is Defective in Mitotic-Spindle Checkpoint [PDF]

, 2000
Shinya Matsuura, Emi Ito, Hiroshi Tauchi, Tatsuro Ikeuchi, Tadashi Kajii, Kenshi Komatsu   +5 more
openalex   +1 more source

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

Pediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo, Yanwei He, Jin Xu, Qiang Shen, Yuxuan Guo, Motoi Kanagawa, Tatsushi Toda, Jingmin Wang, Hong Zhang, Hui Xiong   +18 more
wiley   +1 more source

Defective mitosis-linked DNA damage response and chromosomal instability in liver cancer

, 2019
Maryam Tahmasebi Birgani, Hossein Ansari, Vinicio Carloni   +2 more
openalex   +1 more source

Recent Progress in the Development of Metal‐Based Radiosensitizations for Cancer Therapy: A Review

Rare Metals, EarlyView.
ABSTRACT Radiotherapy (RT) remains an indispensable means in cancer treatment; however, its therapeutic efficacy is often limited by tumor radioresistance and side effect of damage to healthy tissue. The advances in nanotechnology have propelled metal radiosensitizers to forefront of precision medicine.
Xiao‐Xia Wu, Ding‐Hu Zhang, Chuan Hu, Yi‐Nan Ding, Kun Chen, Yi Jiang, Jun Luo, Fei Cao, Wei‐Yuan Hao, Bin‐Yan Zhong, Jie Lin, Dong Xu, Jia‐Ping Zheng   +12 more
wiley   +1 more source