Results 71 to 80 of about 1,069,421 (301)

A Novel Heterozygous Intronic FBN1 Variant Contributes to Aberrant RNA Splicing in Marfan Syndrome

Molecular Genetics & Genomic Medicine
Background Marfan syndrome (MFS) is a complex genetic systemic connective tissue disorder. It is well known that genetic factors play a critical role in the progression of MFS, with nearly all cases attributed to variants in the FBN1 gene.
Djouhayna Dougarem, Yi‐Xiao Chen, Yi‐Na Sun, He‐Feng Huang, Qiong Luo   +4 more
doaj   +1 more source

A Novel SACS Variant Identified in a Chinese Patient: Case Report and Review of the Literature

Frontiers in Neurology, 2022
Mutations in the SACS gene have been linked to autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS). It is a clinically and genetically heterogeneous disease characterized by slow progressive ataxia, spasticity, sensorimotor neuropathy, and
Yuchao Chen, Yuchao Chen, Xiaodong Lu, Yi Jin, Dan Li, Dan Li, Xiaojun Ye, Chenjuan Tao, Menglu Zhou, Haibo Jiang, Hao Yu   +10 more
doaj   +1 more source

Intravitreal GD2‐Specific Chimeric Antigen Receptor T‐Cell Therapy for Refractory Retinoblastoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Effective treatments for advanced, treatment‐resistant retinoblastoma (RB) remain limited. GD2‐specific chimeric antigen receptor (CAR) T cells show potent antitumor activity with minimal toxicity but have not previously been evaluated in RB.
Subongkoch Subhadhirasakul, Jatuporn Sujjitjoon, Pa‐thai Yenchitsomanus, Kridtin Jarutatsanangkoon, Ng Wei Loon, Kleebsabai Sanpakit, Jassada Buaboonnam, Chayamon Takpradit, Pornpimon Yuti, Nunghathai Sawasdee, Piriya Luangwattananun, Siripakorn Sangkitporn, Arnan Limmahachai, La‐ongsri Atchaneeyasakul   +13 more
wiley   +1 more source

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy. [PDF]

, 2019
COX20/FAM36A encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous COX20 missense mutation has been previously described in two separate consanguineous families.
Adams, David, Au, Margaret G, Bai, Renkui, Buckley, David J, Collier, Ashley, Cui, Hong, Diaz, Frank, Gahl, William, Graham, John M, Haude, Katrina, Kim, Jaemin, Lewis, Richard, Mathews, Katherine D, Millian Zamora, Francisca, Otero, Maria G, Panzer, Karin, Pierson, Tyler Mark, Tifft, Cynthia J, Tiongson, Emmanuelle, Toro, Camilo, Turner, Lesley   +20 more
core  

Spatial Scaling in Model Plant Communities

, 2005
We present an analytically tractable variant of the voter model that provides a quantitatively accurate description of beta-diversity (two-point correlation function) in two tropical forests.
Amos Maritan, Igor Volkov, J. Harte, J. Silvertown, J. H. Connell, Jayanth R. Banavar, M. Abramowitz, R. Durrett, R. Holley, S. P. Hubbell, Stephen P. Hubbell, T. M. Liggett, T. M. Liggett, Tommaso Zillio   +13 more
core   +1 more source

A novel heterozygous frameshift pathogenic variant in GCM2 gene causing isolated hypoparathyroidism: a case report

Frontiers in Endocrinology
Glial cells missing transcription factor 2 (GCM2) is one of the genes responsible for isolated hypoparathyroidism. Most cases of hypoparathyroidism caused by GCM2 pathogenic variants result from homozygous or compound heterozygous loss-of-function ...
Ayano Onishi, Yoshinari Obata, Tomoaki Hayakawa, Makoto Fujiwara, Yasuhisa Ohata, Yuri Tamura, Satoshi Kawata, Kosuke Mukai, Kazuyuki Miyashita, Kenichi Yamamoto, Kenichi Yamamoto, Kenichi Yamamoto, Takuo Kubota, Atsunori Fukuhara, Atsunori Fukuhara, Iichiro Shimomura   +15 more
doaj   +1 more source

Case report: Neonatal autoimmune lymphoproliferative syndrome with a novel pathogenic homozygous FAS variant effectively treated with sirolimus

Frontiers in Pediatrics, 2023
BackgroundAutoimmune lymphoproliferative syndrome (ALPS) is a rare disease characterized by defective FAS signaling, which results in chronic, nonmalignant lymphoproliferation and autoimmunity accompanied by increased numbers of “double-negative” T-cells
Fawzia M. Elgharbawy, Fawzia M. Elgharbawy, Mohammed Yousuf Karim, Mohammed Yousuf Karim, Dina Sameh Soliman, Dina Sameh Soliman, Amel Siddik Hassan, Anoop Sudarsanan, Ashraf Gad, Ashraf Gad   +9 more
doaj   +1 more source

NRASQ61R Expression in Lymphatic Endothelial Cells Causes Enlarged Vessels, Hemorrhagic Chylous Effusions, and High Mortality in a Mouse Model of Kaposiform Lymphangiomatosis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Kaposiform lymphangiomatosis (KLA) is an aggressive complex lymphatic anomaly. Patients exhibit malformed lymphatic vessels and often develop hemorrhagic effusions and elevated angiopoietin‐2 (Ang‐2) levels. A somatic NRAS p.Q61R (NRASQ61R) mutation has been associated with KLA.
C. Griffin McDaniel, Patricia Pastura, Joshua P. Scallan, Timothy D. Le Cras   +3 more
wiley   +1 more source

Emerging targets in human lymphoma: targeting the MYD88 mutation [PDF]

, 2016
B cell neoplasms co-opt the molecular machinery of normal B cells for their survival. Technological advances in cancer genomics has significantly contributed to uncovering the root cause of aggressive lymphomas, revealing a previously unknown link ...
Horikawa, Keisuke, Jeelall, Yogesh S., Wang, James Q.   +2 more
core   +1 more source

Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel–Gruber Syndrome 8 in a Non‐Consanguineous Chinese Family

Molecular Genetics & Genomic Medicine
Introduction Meckel‐Gruber syndrome (MKS, OMIM 24,900), also known as Meckel syndrome, is a rare and severe autosomal recessive disorder. The syndrome is typically characterized by a triad of occipital encephalocele, bilateral renal cystic dysplasia, and
Qi Yang, Wei He, Qiang Zhang, Sheng Yi, Xunzhao Zhou, Shujie Zhang, Shang Yi, Qinle Zhang, Jingsi Luo   +8 more
doaj   +1 more source