Results 131 to 140 of about 91,338 (344)

Loss of heterozygosity on chromosomes 17 and 18 in breast carcinoma: two additional regions identified. [PDF]

, 1990
C S Cropp, Rosette Lidereau, Gregory Campbell, M H Champene, Robert Callahan   +4 more
openalex   +1 more source

Retinitis Pigmentosa‐Associated Gene TRIM49 Regulates ULK1‐Mediated Autophagy and Photoreceptor Phagocytosis by the Retinal Pigment Epithelium

Advanced Science, EarlyView.
Based on next‐generation sequencing data of retinitis pigmentosa (RP) patients and controls, this study identifies TRIM49 as a novel gene for autosomal recessive RP. TRIM49 is specifically expressed in the retinal pigment epithelium (RPE) of human retina.
Zhen Yi, Chaojuan Wen, Han Du, Yingwei Wang, Shuowei Chen, Jie Liu, Shuhan Zhang, Junwen Wang, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Yi Jiang, Jiamin Ouyang, Panfeng Wang, James Fielding Hejtmancik, Wenmin Sun, Huangxuan Shen, Qingjiong Zhang   +17 more
wiley   +1 more source

Loss of Heterozygosity at the bcl‐2 Gene Locus and Expression of bcl‐2 in Human Gastric and Colorectal Carcinomas [PDF]

, 1994
A. Ayhan, Wataru Yasui, Hiroshi Yokozaki, Masao Seto, Ryuzo Ueda, Eiichi Tahara   +5 more
openalex   +1 more source

Selection maintains floral color polymorphism in scarlet paintbrush, Castilleja coccinea, reflecting combined ecological factors

American Journal of Botany, EarlyView.
Abstract Premise Evolutionary theory predicts polymorphism should be rare; however, intraspecific variation in floral color is common and can be attributed to genetic drift, plasticity, or variable selection. Examining floral color polymorphism both within contact zones and across a species' range can reveal the mechanisms maintaining this variation ...
Emma Fetterly, Anna S. Braum, Chloe (Eun Sun) Kim, Katherine E. Wenzell, Mary V. Ashley, Laura Steger, Jeremie B. Fant   +6 more
wiley   +1 more source

Chromosome 11 Loss of Heterozygosity

Definitions, 2020

semanticscholar   +1 more source

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa, Mareike Selig, Markus Wingendorf, Matthew A. Brown, Oliver Bartsch   +4 more
wiley   +1 more source

Chromosome 10 Loss of Heterozygosity

Definitions, 2020

semanticscholar   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

Evidence That Lymphangiomyomatosis Is Caused by TSC2 Mutations: Chromosome 16p13 Loss of Heterozygosity in Angiomyolipomas and Lymph Nodes from Women with Lymphangiomyomatosis [PDF]

, 1998
Teresa A. Smolarek, Lisa L. Wessner, Francis X. McCormack, Johanna C. Mylet, Anil G. Menon, Elizabeth P. Henske   +5 more
openalex   +1 more source