A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene
Case Reports in Genetics, 2021 Background. Spastic paraplegia type 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) caused by mutations in the SPAST gene. Case Presentation.
Li Xu +6 more
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Further genetic heterogeneity for autosomal dominant human sutural cataracts [PDF]
, 2003 A unique sutural cataract was observed in a 4-generation German family to be transmitted as an isolated autosomal, dominant trait. Since mutations in the gamma-crystallin encoding CRYG genes have previously been demonstrated to be the most frequent ...
Billingsley, G. +6 more
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Phosphorylation of pRb: mechanism for RB pathway inactivation in MYCN-amplified retinoblastoma. [PDF]
, 2017 A small, but unique subgroup of retinoblastoma has been identified with no detectable mutation in the retinoblastoma gene (RB1) and with high levels of MYCN gene amplification.
Bhatti, Tricia R. +6 more
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The Deafness-Associated Mitochondrial DNA Mutation at Position 7445, Which Affects tRNASer(UCN) Precursor Processing, Has Long-Range Effects on NADH Dehydrogenase Subunit ND6 Gene Expression [PDF]
, 1998 The pathogenetic mechanism of the deafness-associated mitochondrial DNA (mtDNA) T7445C mutation has been investigated in several lymphoblastoid cell lines from members of a New Zealand pedigree exhibiting the mutation in homoplasmic form and from control
Attardi, Giuseppe +6 more
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DDIT4 Novel Mutations in Pancreatic Cancer
Gastroenterology Research and Practice, 2021 Pancreatic cancer is one of the most common malignancies worldwide. This study is aimed at searching the possible genetic mutations and the value of novel gene mutation in the DNA damage-inducible transcript 4 (DDIT4) and signaling pathway in pancreatic ...
Fadian Ding +8 more
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Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation [PDF]
, 2016 Background: Breast cancer risk increases drastically in individuals carrying a germline BRCA1 mutation. The exposure to ionizing radiation for diagnostic or therapeutic purposes of BRCA1 mutation carriers is counterintuitive, since BRCA1 is active in the
A Pijpe +67 more
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Zhongguo shuxue zazhi, 2022 Objective To study the serological and molecular mechanism of a case of para-Bombay blood group caused by 236delG mutation of FUT1 gene and investigate the pedigree.
Mingdi HE, Tingting XU, Jie ZOU
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Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. [PDF]
, 2014 Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation.
Bai, Shaochun +5 more
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The Study of BRCA1 and BRCA2 Gene Mutations in Benign and Malignant Lesions of the Breast
Sokoto Journal of Medical Laboratory Science, 2023 Understanding the role of BRCA 1 and BRCA2 gene mutations is critical in the study of breast carcinogenesis. The aim was to study was to investigate BRCA | and BRCA2 gene mutations in benign and malignant lesions of the breast.
Ekundina Victor Olukayode , Unuigbokhai Ayomide Olohigbe , Wilson Serbia Princess
doaj
Talaromyces marneffei infection with IFNGR1 gene mutation in a patient with negative Anti-Interferon-γ autoantibodies [PDF]
Anais Brasileiros de DermatologiaBackground Talaromyces Marneffei (TM) is a rare opportunistic pathogen that mostly infects patients with low immunity compared to those with normal immunity. It may be related to immune deficiency or genetic factors.
Shiyang Li +5 more
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