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ABSTRAK: Bahasa Indonesia saat ini semakin dikenal di kalangan internasional. Hal ini dapat menjadi salah satu faktor peningkatan peminat pembelajaran Bahasa Indonesia oleh Penutur Asing (BIPA). Di sisi lain, Jakarta sebagai pintu gerbang masuknya turis manca negara, memiliki kekhasan dan kearifan lokal tersendiri yang memungkinkan untuk diperkenalkan kepada Pembelajar BIPA khususnya yang berdomisili di Jakarta yang berminat pula terhadap budaya lokal. Pembelajaran BIPA yang berbasis pada kearifan lokal, membawa pemikiran baru kearah pengembangan bahan ajarnya, atau bahan ajar tambahan yang diharapkan dapat memberi variasi bahan ajar yang telah tersedia saat ini. Penelitian ini merupakan penjajakan berupa analisis kebutuhan pengembangan bahan ajar BIPA bagi penutur bahasa Jepang berbasis muatan lokal Jakarta. Penelitian menggunakan metode deskriptif. Melalui teknik angket, data dikumpulkan dari pembelajar dan pengajar BIPA. Dari hasil pengolahan data dapat diketahui bahwa sebagian pembelajar memikili tujuan agar dapat berkomunikasi dengan teman orang Indonesia. Tujuan lainnya adalah untuk kebutuhan komunikasi dan bekerja di Indonesia. Umunya mereka merupakan pembelajar awal, menyukai pembelajaran secara individu dengan menggunakan media pembelajaran yang bersifat visual seperti buku serta tontonan. Sumber pembelajaran yang biasa digunakan, selain buku ajar, berupa video pembelajaran pada You Tube, serta penelusuran di google. Dalam hal kearifan lokal Jakarta, Ondel-Ondel dan Rumah Adat Betawi menjadi tema yang paling diminati. Selanjutnya diikuti oleh tema mengenai Baju Demang Betawi, Roti Buaya, Nyorog, Tanjidor, Gambang Kromong, Cerita Si Pitung, Pencak Silat, dan terakhir Lenong. Penelitian ini bertujuan memberikan gambaran mengenai bentuk serta muatan kearifan lokal Jakarta yang diharapkan dapat berintergrasi dalam pembelajaran BIPA bagi penutur bahasa Jepang. KATA KUNCI: bahan ajar; BIPA; Jakarta; kearifan lokal; kebutuhan NEED ANALYSIS OF BIPA LEARNING MATERIALS FOR JAPANESE SPEAKERS BASED ON JAKARTA’S WISDOM ABSTRACT: Indonesian is currently well-known in international tourism. This can be one of the factors in learning Indonesian by Foreign Speakers (BIPA). Also, Jakarta as the gateway for foreign tourists, has its own uniqueness and local Traditions that can be introduced to BIPA Learners, especially those domiciled in Jakarta who are also interested in local culture. BIPA learning based on local wisdom brings new ideas towards the development of its teaching materials or additional teaching materials that are expected to provide variations in the teaching materials that are currently available. This study explores the need to develop BIPA teaching materials for Japanese speakers based on local content in Jakarta. The study uses a descriptive method. Data was collected from BIPA learners and teachers through a questionnaire technique. The results of data processing, can be seen that some learners have the goal of being able to communicate friends. And other to meet communication needs and work in Indonesia. Generally, a Beginner, like individual learning using visual media such as books and shows. Commonly used learning resources, in addition to textbooks, are Google search and Youtube. the local wisdom of Jakarta, Ondel-Ondel and Betawi Traditional Houses are most popular themes. This is followed by themes regarding Baju Demang Betawi, Roti Buaya, Nyorog, Tanjidor, Gambang Kromong, Cerita Si Pitung, Pencak Silat, and finally Lenong. This study aims to provide an overview of the form and content of local wisdom of Jakarta which is expected to be integrated into BIPA learning for Japanese speakers. KEYWORDS: BIPA; Jakarta; learning materials; local wisdom; needs analysis

This study aims to describe the response when male and female speakers of the Japanese language perform interpersonal communication, which is indicated by conflict by looking at the nonverbal codes and the nonverbal functions used by the threatened communicant. The reason for choosing this topic is that men and women often experience miscommunication when communicating interpersonally, which causes conflicts between men and women. Understanding each other's nonverbal codes shown by each communicator is a way to establish better intergender communication. The theory used is the theory of 3F (freeze, flight, and fight) from Navarro & Karlins (2008) and the theory of nonverbal functions from Ekman and Friesen (1969). The data collection technique used in this study is the note-taking technique and analyzed using a pragmatic equivalent technique. The results of this study show that men who feel threatened by women more often use the fight response, while women who are threatened use the freeze response more often. Men use 16 gestures, while women use 34 when they feel threatened. Looking at the other person is men's and women's most frequently used gesture. Men showed nonverbal codes 7 times, with the most nonverbal code shown being discomfort. Women showed nonverbal codes 18 times, with the most nonverbal codes shown being discomfort, nervousness, worry, stress and fear, and nervousness. There are 9 nonverbal functions in intergender communication, with repetition being the nonverbal function often shown. Women are more likely to get threats from men. Women use nonverbal communication more often.

Over 70% of breast cancers express the estrogen receptor (ER) and depend on ER activity for survival and proliferation. While hormone therapies that target receptor activity are initially effective, patients invariably develop resistance which is often associated with activation of the phosphoinositide 3-kinase (PI3K)/Akt/mammalian target of rapamycin (mTOR) pathway. While the mechanism by which estrogen regulates proliferation is not fully understood, one gene target of ER, growth regulation by estrogen in breast cancer 1 (GREB1), is required for hormone-dependent proliferation. However, the molecular function by which GREB1 regulates proliferation is unknown. Herein, we validate that knockdown of GREB1 results in growth arrest and that exogenous GREB1 expression initiates senescence, suggesting that an optimal level of GREB1 expression is necessary for proliferation of breast cancer cells. Under both of these conditions, GREB1 is able to regulate signaling through the PI3K/Akt/mTOR pathway. GREB1 acts intrinsically through PI3K to regulate phosphatidylinositol (3,4,5)-triphosphate levels and Akt activity. Critically, growth suppression of estrogen-dependent breast cancer cells by GREB1 knockdown is rescued by expression of constitutively activated Akt. Together, these data identify a novel molecular function by which GREB1 regulates breast cancer proliferation through Akt activation and provides a mechanistic link between estrogen signaling and the PI3K pathway., (Published by Oxford University Press 2020.)

It was highlighted that the original article [1] contained a typographical error in the Results section. Subject 17 was incorrectly cited as Subject 1. This Correction article shows the revised statement. The original article has been updated.

Background: Neurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), structural brain abnormalities, and neurological manifestations with variants in a large number of genes (hundreds) associated. To date, a few de novo mutations potentially disrupting TCF20 function in patients with ID, ASD, and hypotonia have been reported. TCF20 encodes a transcriptional co-regulator structurally related to RAI1, the dosage-sensitive gene responsible for Smith-Magenis syndrome (deletion/haploinsufficiency) and Potocki-Lupski syndrome (duplication/triplosensitivity)., Methods: Genome-wide analyses by exome sequencing (ES) and chromosomal microarray analysis (CMA) identified individuals with heterozygous, likely damaging, loss-of-function alleles in TCF20. We implemented further molecular and clinical analyses to determine the inheritance of the pathogenic variant alleles and studied the spectrum of phenotypes., Results: We report 25 unique inactivating single nucleotide variants/indels (1 missense, 1 canonical splice-site variant, 18 frameshift, and 5 nonsense) and 4 deletions of TCF20. The pathogenic variants were detected in 32 patients and 4 affected parents from 31 unrelated families. Among cases with available parental samples, the variants were de novo in 20 instances and inherited from 4 symptomatic parents in 5, including in one set of monozygotic twins. Two pathogenic loss-of-function variants were recurrent in unrelated families. Patients presented with a phenotype characterized by developmental delay, intellectual disability, hypotonia, variable dysmorphic features, movement disorders, and sleep disturbances., Conclusions: TCF20 pathogenic variants are associated with a novel syndrome manifesting clinical characteristics similar to those observed in Smith-Magenis syndrome. Together with previously described cases, the clinical entity of TCF20-associated neurodevelopmental disorders (TAND) emerges from a genotype-driven perspective.

Steel syndrome is an autosomal recessive disease characterized by skeletal abnormalities and dysmorphic features. The first mutation associated with this syndrome was reported in Puerto Rican children. In this study, we identified a novel homozygous splice site variant in COL27A1 (c.3556-2A>G) in a consanguineous Emirati family with a child affected by Steel syndrome. In addition, the affected child had severe non-progressive sensorineural hearing loss not reported previously. The variant segregated in the family in an autosomal recessive manner and we show that the variant alters mRNA splicing. Furthermore, relative quantitative analysis revealed a marked reduction in gene expression in the proposita compared to healthy controls. Segregation analysis of heterozygous variants, related to hearing loss, identified by whole exome sequencing in the child (ILDR1: c.1159T>C, SYNE4: c.313G>C, and GPR98: c.18746T>G) excluded them from being responsible for the hearing loss in the proposita. In addition, the products of these genes are not interacting in the same pathway and have only been reported to cause deafness in an autosomal recessive manner. Therefore, we conclude that the novel splice-site variant identified in COL27A1 is the most likely cause for Steel syndrome in this family and that the hearing loss is part of this syndrome's phenotype., (© 2017 Wiley Periodicals, Inc.)

Pathogenic variants in theP21 protein (Cdc42/Rac)-activated kinase 3gene (PAK3) lead to a rare non syndromic X-linked intellectual disability. The protein encoded by this gene forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1 proteins which then mediates a variety of cellular processes. So far, mutations in PAK3 gene have been reported in few families affected with intellectual disability associated with neurological manifestations such as speech defect, behavioral problem, brain structural abnormalities, microcephaly and cerebral palsy. In this study whole exome sequencing revealed a de novo likely pathogenic variant in PAK3 gene in monozygotic twins presented with intellectual disability, speech delay, behavioral problems and macrocephaly. Macrocephaly was noticed in our patients from birth at 35 weeks of gestation. This aspect of the phenotype has not been previously reported in other documented cases with pathogenic mutations in PAK3 gene. Our findings extend the phenotype of this disorder to include macrocephaly and offers further clues to the importance of the serine/threonine-protein kinase 3 (PAK3) protein in brain development and function., (Copyright © 2017 Elsevier Masson SAS. All rights reserved.)

Impairment of ubiquitin-proteasome system activity involving ubiquitin ligase genes UBE3A, UBE3B, and HUWE1 and deubiquitinating enzyme genes USP7 and USP9X has been reported in patients with neurodevelopmental delays. To date, only a handful of single-nucleotide variants (SNVs) and copy-number variants (CNVs) involving TRIP12, encoding a member of the HECT domain E3 ubiquitin ligases family on chromosome 2q36.3 have been reported. Using chromosomal microarray analysis and whole-exome sequencing (WES), we have identified, respectively, five deletion CNVs and four inactivating SNVs (two frameshifts, one missense, and one splicing) in TRIP12. Seven of these variants were found to be de novo; parental studies could not be completed in two families. Quantitative PCR analyses of the splicing mutation showed a dramatically decreased level of TRIP12 mRNA in the proband compared to the family controls, indicating a loss-of-function mechanism. The shared clinical features include intellectual disability with or without autistic spectrum disorders, speech delay, and facial dysmorphism. Our findings demonstrate that E3 ubiquitin ligase TRIP12 plays an important role in nervous system development and function. The nine presented pathogenic variants further document that TRIP12 haploinsufficiency causes a childhood-onset neurodevelopmental disorder. Finally, our data enable expansion of the phenotypic spectrum of ubiquitin-proteasome dependent disorders.

Mutations in DYNC1H1, the gene encoding the largest cytoplasmic dynein, have been associated with a wide spectrum of neurodegenerative disorders. In this study, we describe a child in whom a novel de novo likely pathogenic variant in the motor domain of DYCN1H1 was identified through whole exome sequencing. The affected child presented with severe neurological symptoms and more extensive cortical malformations compared to previously reported cases with mutations in this gene, including diffuse pachygyria-lissencephaly and bilateral symmetric subcortical gray matter heterotopia. A more distinct aspect of the phenotype in this child is the presence of cataract in infancy. So far, only acquired bilateral cataract in adulthood has been described in this disorder in a patient with a much milder neurological phenotype. These findings could extend the phenotype associated with defective DYNC1H1 and suggest a possible important role in human ocular development.

Intellectual disability (ID) is a major public health burden on most societies with significant socioeconomic costs. It has been shown that genetic mutations in numerous genes are responsible for a proportion of hereditary forms of ID. NOP2/Sun transfer RNA (tRNA) methyltransferase family member 2 encoded by NSUN2 gene is a highly conserved protein and has been shown to cause autosomal recessive ID type 5 (MRT5). In this study, we recruited an Emirati consanguineous family with a patient diagnosed with ID. Whole-exome sequencing revealed a homozygous variant c.1020delA in NSUN2 gene. The variants segregated in an autosomal recessive mode of inheritance in the family. This variant is novel and causes a frameshift and premature stop codon. At the messenger RNA (mRNA) level, relative expression analysis showed a decreased level of NSUN2 mRNA in the affected child compared to a healthy individual. Mutation prediction analysis and clinical investigation confirmed the pathogenic nature of the identified variant. We therefore conclude that c.1020delA mutation in NSUN2 is most likely the cause of ID in our patient.

Ventricular septal defect (VSD) is one of the most common types of congenital heart defects (CHD). There are vivid multifactorial causes for VSD in which both genetic and environmental risk factors are consequential in the development of CHD. Methionine synthase reductase (MTRR) and methylenetetrahydrofolate reductase (MTHFR) are two of the key regulatory enzymes involved in the metabolic pathway of homocysteine. Genes involved in homocysteine/folate metabolism may play an important role in CHDs. In this study; we determined the association of A66G and C524T polymorphisms of the MTRR gene and C677T polymorphism of the MTHFR gene in Iranian VSD subjects. A total of 123 children with VSDs and 125 healthy children were included in this study. Genomic DNA was extracted from the buccal cells of all the subjects. The restriction fragment length polymorphism polymerase chain reaction (PCR-RFLP) method was carried out to amplify the A66G and C524T polymorphism of MTRR and C677T polymorphism of MTHFR genes digested with Hinf1, Xho1 and Nde1 enzymes, respectively. The genotype frequencies of CC, CT and TT of MTRR gene among the studied cases were 43.1%, 40.7% and 16.3%, respectively, compared to 52.8%, 43.2% and 4.0%, respectively among the controls. For the MTRR A66G gene polymorphism, the genotypes frequencies of AA, AG and GG among the cases were 33.3%, 43.9% and 22.8%, respectively, while the frequencies were 49.6%, 42.4% and 8.0%, respectively, among control subjects. The frequencies for CC and CT genotypes of the MTHFR gene were 51.2% and 48.8%, respectively, in VSD patients compared to 56.8% and 43.2% respectively, in control subjects. Apart from MTHFR C677T polymorphism, significant differences were noticed (p < 0.05) in C524T and A66G polymorphisms of the MTRR gene between cases and control subjects.