Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.

abstract：BACKGROUND:Fowler syndrome is a rare autosomal recessive disorder characterized by hydranencephaly-hydrocephaly and multiple pterygium due to fetal akinesia. To date, around 45 cases from 27 families have been reported, and the pathogenic bi-allelic mutations in FLVCR2 gene described in 15 families. The pathogenesis of...

journal_title：Molecular genetics & genomic medicine

authors： Radio FC,Di Meglio L,Agolini E,Bellacchio E,Rinelli M,Toscano P,Boldrini R,Novelli A,Di Meglio A,Dallapiccola B

更新日期：2018-05-01 00:00:00

abstract：BACKGROUND:Due to extensive clinical and genetic heterogeneity of intellectual disability (ID) syndromes, the process of diagnosis is very challenging even for expert clinicians. Despite recent advancements in molecular diagnostics methodologies, a significant fraction of ID patients remains without a clinical diagnosi...

journal_title：Molecular genetics & genomic medicine

authors： Jezela-Stanek A,Ciara E,Jurkiewicz D,Kucharczyk M,Jędrzejowska M,Chrzanowska KH,Krajewska-Walasek M,Żemojtel T

更新日期：2020-09-01 00:00:00

abstract：BACKGROUND:p.Ser43Asn is a very rare transthyretin (TTR) mutation leading to familial amyloidosis of transthyretin type, ATTR amyloidosis. It was previously observed in four patients worldwide and is associated almost invariably with an isolated cardiac phenotype. METHODS AND RESULTS:We report here on an Italian famil...

journal_title：Molecular genetics & genomic medicine

authors： Papathanasiou M,Carpinteiro A,Kersting D,Jakstaite AM,Hagenacker T,Schlosser TW,Rischpler C,Rassaf T,Luedike P

更新日期：2020-12-20 00:00:00

abstract：BACKGROUND:Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease with colorectal adenomatous polyps as the main clinical manifestations. The objective of this study was to analyze and compare the expression levels of tumor proliferation and angiogenesis-related genes in different tissue secti...

journal_title：Molecular genetics & genomic medicine

authors： Zhang Z,Wang D,Xu C,Li Y,Yu Y,Chen C,Li M,Zhang X

更新日期：2020-12-01 00:00:00

abstract：BACKGROUND:Studies evaluating next-generation sequencing (NGS) for retinal disorders may not reflect clinical practice. We report results of retrospective analysis of patients referred for clinical testing at two institutions (US and India). METHODS:This retrospective study of 131 patients who underwent clinically val...

journal_title：Molecular genetics & genomic medicine

authors： Yohe S,Sivasankar M,Ghosh A,Ghosh A,Holle J,Murugan S,Gupta R,Schimmenti LA,Vedam R,Thyagarajan B

更新日期：2020-02-01 00:00:00

abstract：BACKGROUND:There have been many reports on midkine as a promising marker in the diagnosis of hepatocellular carcinoma (HCC). However, the results are inconsistent and even conflicting. METHODS:This meta-analysis was performed to investigate the accuracy of midkine in the diagnosis of HCC. Meta-DiSc 1.4 software was us...

journal_title：Molecular genetics & genomic medicine

authors： Zhang Y,Tang J,Zhou X,Zhu SL,Li LQ

更新日期：2020-02-01 00:00:00

abstract：:Single mutations in the ATP-binding cassette transporter (ABCC6) gene (OMIM 603234) are known to cause the rare autosomal recessive disease pseudoxanthoma elasticum (PXE). Recently, we have found that copy number variations (CNVs) in pseudogenes of the ABCC6 gene are quite common. The aim of this study was to investig...

journal_title：Molecular genetics & genomic medicine

authors： Kringen MK,Stormo C,Berg JP,Terry SF,Vocke CM,Rizvi S,Hendig D,Piehler AP

更新日期：2015-05-01 00:00:00

abstract：BACKGROUND:Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous cutaneous disease predominantly characterized by erythroderma, generalized abnormal scaling of the whole body and a collodion membrane at birth. Numerous causative genes have been demonstrated to be responsible for ARCI incl...

journal_title：Molecular genetics & genomic medicine

authors： Li L,Liu W,Xu Y,Li M,Tang Q,Yu B,Cai R,Liu S

更新日期：2020-02-01 00:00:00

abstract：BACKGROUND:MYO3A, encoding the myosin IIIA protein, is associated with autosomal recessive and autosomal dominant nonsyndromic hearing loss. To date, only two missense variants located in the motor-head domain of MYO3A have been described in autosomal dominant families with progressive, mild-to-profound sensorineural h...

journal_title：Molecular genetics & genomic medicine

authors： Doll J,Hofrichter MAH,Bahena P,Heihoff A,Segebarth D,Müller T,Dittrich M,Haaf T,Vona B

更新日期：2020-08-01 00:00:00

abstract：BACKGROUND:Resources within the Undiagnosed Diseases Network (UDN), such as genome sequencing (GS) and model organisms aid in diagnosis and identification of new disease genes, but are currently difficult to access by clinical providers. While these resources do contribute to diagnoses in many cases, they are not alway...

journal_title：Molecular genetics & genomic medicine

authors： Cope H,Spillmann R,Rosenfeld JA,Brokamp E,Signer R,Schoch K,Kelley EG,Sullivan JA,Macnamara E,Lincoln S,Golden-Grant K,Undiagnosed Diseases Network.,Orengo JP,Clark G,Burrage LC,Posey JE,Punetha J,Robertson A,Cogan J

更新日期：2020-10-01 00:00:00

abstract：BACKGROUND:The NIPAL4 gene is described to be implicated of Congenital Ichthyosiform Erythroderma (CIE). It encodes a magnesium transporter membrane-associated protein, hypothetically involved in epidermal lipid processing and in lamellar body formation. The aim of this work is to investigate the causative mutation in ...

journal_title：Molecular genetics & genomic medicine

authors： Laadhar S,Ben Mansour R,Marrakchi S,Miled N,Ennouri M,Fischer J,Kaddechi MA,Turki H,Fakhfakh F

更新日期：2020-03-01 00:00:00

abstract：BACKGROUND:Site-1 Protease (S1P) is a Golgi-resident protein required for the activation of regulatory proteins that drive key cellular functions, including, the unfolded protein response (UPR) and lipid and cholesterol biosynthesis. While disruptions in S1P function have been widely characterized in animal models, to ...

journal_title：Molecular genetics & genomic medicine

authors： Schweitzer GG,Gan C,Bucelli RC,Wegner D,Schmidt RE,Shinawi M,Finck BN,Brookheart RT

更新日期：2019-07-01 00:00:00

abstract：BACKGROUND:Next-generation sequencing (NGS) opens new options in clinical oncology, from therapy selection to genetic counseling. However, realization of this potential not only requires succeeding in the bioinformatics and interpretation of the results, but also in their integration into the clinical practice. We have...

journal_title：Molecular genetics & genomic medicine

authors： Cabanillas R,Diñeiro M,Castillo D,Pruneda PC,Penas C,Cifuentes GA,de Vicente Á,Durán NS,Álvarez R,Ordóñez GR,Cadiñanos J

更新日期：2017-04-23 00:00:00

abstract：BACKGROUND:Wieacker-Wolff syndrome (WWS) is a congenital X-linked neuromuscular disorder, which was firstly reported in 1985. Zinc finger C4H2-type containing (ZC4H2) gene has been found to be associated with the disease pathogenesis. However, the underlying mechanism remains elusive. METHODS:Whole-exome sequencing wa...

journal_title：Molecular genetics & genomic medicine

authors： Wang D,Hu D,Guo Z,Hu R,Wang Q,Liu Y,Liu M,Meng Z,Yang H,Zhang Y,Cai F,Zhou W,Song W

更新日期：2020-02-01 00:00:00

abstract：BACKGROUND:C-Jun and EGFR have not been explored as targets via the mechanism of RNA silencing. Hence, this study designed an efficient C-Jun-h-825 small interfering RNA (siRNA) and investigated its effect on matrix metalloproteinase (MMP) and collagen expression in human keratinocytes exposed to UV radiation. METHODS...

journal_title：Molecular genetics & genomic medicine

authors： Xiao H,Yang R,Yang F,Zhao Y,Liu Y

更新日期：2020-01-01 00:00:00

abstract：BACKGROUND:The deletion of the distal 7q region is a rare chromosomal syndrome characterized by wide phenotypic manifestations including growth and psychomotor delay, facial dysmorphisms, and genitourinary malformations. METHODS:We describe a 6-year-old child with a 12-Mb deletion of the region 7q35q36.3. RESULTS:Amo...

journal_title：Molecular genetics & genomic medicine

authors： Di Stolfo G,Accadia M,Mastroianno S,Leone MP,Palumbo O,Palumbo P,Potenza D,Maccarone P,Sacco M,Russo A,Carella M

更新日期：2019-09-01 00:00:00

abstract：BACKGROUND:Fanconi anemia (FA) is phenotypically diverse, hereditary condition associated with bone marrow failure, multiple physical abnormalities, and an increased susceptibility to the development of malignancies. Less recognized manifestations of FA include endocrine abnormalities. International discourse has highl...

journal_title：Molecular genetics & genomic medicine

authors： Dillon B,Feben C,Segal D,du Plessis J,Reynders D,Wainwright R,Poole J,Krause A

更新日期：2020-08-01 00:00:00

abstract：BACKGROUND:Genetic association studies for gastroschisis have highlighted several candidate variants. However, genetic basis in gastroschisis from noninvestigated heritable factors could provide new insights into the human biology for this birth defect. We aim to identify novel gastroschisis susceptibility variants by ...

journal_title：Molecular genetics & genomic medicine

authors： Salinas-Torres VM,Gallardo-Blanco HL,Salinas-Torres RA,Cerda-Flores RM,Lugo-Trampe JJ,Villarreal-Martínez DZ,Ibarra-Ramírez M,Martínez de Villarreal LE

更新日期：2020-05-01 00:00:00

abstract：BACKGROUND:TOP2B encodes type II topoisomerase beta, which controls topological changes during DNA transcription. TOP2B is expressed in the developing nervous system and is involved in brain development and neural differentiation. Recently, a de novo missense TOP2B variant (c.187C>T) has been identified in an individua...

journal_title：Molecular genetics & genomic medicine

authors： Hiraide T,Watanabe S,Matsubayashi T,Yanagi K,Nakashima M,Ogata T,Saitsu H

更新日期：2020-03-01 00:00:00

abstract：BACKGROUND:Over 500 epigenetic regulators have been identified throughout the human genome. Of these, approximately 30 chromatin modifiers have been implicated thus far in human disease. Recently, variants in BRPF1, encoding a chromatin reader, have been associated with a previously unrecognized autosomal dominant synd...

journal_title：Molecular genetics & genomic medicine

authors： Pode-Shakked N,Barel O,Pode-Shakked B,Eliyahu A,Singer A,Nayshool O,Kol N,Raas-Rothschild A,Pras E,Shohat M

更新日期：2019-06-01 00:00:00

abstract：BACKGROUND:Pituitary adenomas (PAs) are one of the most common intracranial tumors; approximately half of PAs are prolactin (PRL)-secreting PAs (prolactinomas). The genetic alterations prevalent in prolactinomas are unknown. METHODS:Here, we present a patient with an extremely aggressive and giant prolactinoma accompa...

journal_title：Molecular genetics & genomic medicine

authors： Miao Y,Li C,Guo J,Wang H,Gong L,Xie W,Zhang Y

更新日期：2019-12-01 00:00:00

abstract：BACKGROUND:Obesity has become the main health issue in developed countries as it impacts life expectancy and increases mortality of cerebrovascular or cardiovascular diseases. The leptin is one of the adipokines which presents in the serum in proportion to the amount of adipose tissue and is translated from LEP gene. I...

journal_title：Molecular genetics & genomic medicine

authors： Duan DM,Jhang JY,Wu S,Teng MS,Hsu LA,Ko YL

更新日期：2020-03-01 00:00:00

abstract：:The impact of cryptic relatedness (CR) on genomic association studies is well studied and known to inflate false-positive rates as reported by several groups. In contrast, conventional epidemiological studies for environmental risks, the confounding effect of CR is still uninvestigated. In this study, we investigated ...

journal_title：Molecular genetics & genomic medicine

authors： Shibata K,Hozawa A,Tamiya G,Ueki M,Nakamura T,Narimatsu H,Kubota I,Ueno Y,Kato T,Yamashita H,Fukao A,Kayama T,Yamagata University Genomic Cohort Consortiuma.

更新日期：2013-05-01 00:00:00

abstract：BACKGROUND:This study set out to determine key lncRNAs correlated with sepsis via constructing competing endogenous RNA (ceRNA) network. METHODS:Three septic patients and three healthy controls were recruited to obtain lncRNA profiles in this current study. Combined with the mRNA profiles by RNA-sequencing, an integra...

journal_title：Molecular genetics & genomic medicine

authors： Guo X,Qin Y,Wang L,Dong S,Yan Y,Bian X,Zhao C

更新日期：2020-11-25 00:00:00

abstract：BACKGROUND:Long noncoding RNAs (lncRNAs) are from the family of noncoding RNAs. Existing studies have shown that lncRNAs are involved in many biological processes and are strongly related to the occurrence and development of tumors. Recent studies have indicated that lncRNA GIHCG participates in the progression of many...

journal_title：Molecular genetics & genomic medicine

authors： Liu G,Jiang Z,Qiao M,Wang F

更新日期：2019-06-01 00:00:00

abstract：BACKGROUND:Congenital disorder of glycosylation (CDG) type I is a group of rare disorders caused by recessive mutations in up to 25 genes that impair the N-glycan precursor formation and its transfer to proteins resulting in hypoglycosylation of multiple proteins. Congenital disorder of glycosylation causes multisystem...

journal_title：Molecular genetics & genomic medicine

authors： de la Morena-Barrio ME,Sabater M,de la Morena-Barrio B,Ruhaak RL,Miñano A,Padilla J,Toderici M,Roldán V,Gimeno JR,Vicente V,Corral J

更新日期：2020-08-01 00:00:00

abstract：BACKGROUND:With the availability of raw DNA generated from direct-to-consumer (DTC) testing companies, there has been a proliferation of third-party online services that are available to interpret the raw data for both genealogy and/or health purposes. This study examines the current landscape and downstream clinical i...

journal_title：Molecular genetics & genomic medicine

authors： Wang C,Cahill TJ,Parlato A,Wertz B,Zhong Q,Cunningham TN,Cummings JJ

更新日期：2018-01-01 00:00:00

abstract：BACKGROUND:Age-related cataracts (ARC) is the most common blinding eye disease worldwide, and its incidence tend to become younger. However, the relationship between genetic factors and mechanisms is not fully understood. The aim of the study was to further clarify the relationship between ARC and genetic mechanisms in...

journal_title：Molecular genetics & genomic medicine

authors： Li JK,Li LL,Li W,Wang ZW,Gao FJ,Hu FY,Zhang SH,Qu SF,Huang J,Wang LS,Wu JH,Chen F

更新日期：2020-07-01 00:00:00

abstract：BACKGROUND:EAST syndrome is an autosomal recessive disorder caused by loss-of-function mutations in the gene KCNJ10. Among the 14 pathogenic mutations described so far, the p.R65P mutation stands out as the most frequent one and is particularly associated with patients of Pakistani origin. As a result we aimed to estab...

journal_title：Molecular genetics & genomic medicine

authors： Abdelhadi O,Iancu D,Tekman M,Stanescu H,Bockenhauer D,Kleta R

更新日期：2016-06-07 00:00:00

abstract：BACKGROUND:The risk of serious congenital anomaly for de novo balanced translocations is estimated to be at least 6%. We identified two apparently independent families with a balanced t(1;12)(q43;q21.1) as an outcome of a "Systematic Survey of Balanced Chromosomal Rearrangements in Finns." In the first family, carriers...

journal_title：Molecular genetics & genomic medicine

authors： Luukkonen TM,Mehrjouy MM,Pöyhönen M,Anttonen AK,Lahermo P,Ellonen P,Paulin L,Tommerup N,Palotie A,Varilo T

更新日期：2018-01-01 00:00:00